Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Recombinant vaccine-derived poliovirus in Madagascar.
PMID 12899139 · PMC3023450 · Emerging infectious diseases · 2003 · 7 claims · 4 setups
Five acute flaccid paralysis cases in southern Madagascar were associated with vaccine-derived poliovirus (VDPV) type 2 isolates
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Hepatitis B virus genotypes circulating in Brazil: molecular characterization of genotype F isolates.
PMID 18036224 · PMC2231365 · BMC microbiology · 2007 · 8 claims · 4 setups
Genotypes A, D, and F co-circulate in each of the five Brazilian geographic regions, with no other genotypes identified among 303 isolates
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Dual and recombinant infections: an integral part of the HIV-1 epidemic in Brazil.
PMID 10081673 · PMC2627691 · Emerging infectious diseases · 1999 · 8 claims · 8 setups
Among 79 HIV-1 infected patients, 3 (3.8%) had dual infections, 6 (7.6%) had recombinant infections, and 70 (88.6%) had single-subtype infections
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Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment.
PMID 10449521 · PMC2195597 · The Journal of experimental medicine · 1999 · 7 claims · 8 setups
A novel C→A point mutation at nucleotide 850 of GCSFR cDNA causes a Pro→His substitution at position 206 (P206H) in the proline-rich hinge of the CRH domain of the G-CSF receptor extracellular domain in an SCN patient hyporesponsive to G-CSF.
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High-density SNP genotyping to define beta-globin locus haplotypes.
PMID 18829352 · PMC4251776 · Blood cells, molecules & diseases · 2009 · 8 claims · 5 setups
RFLP analysis lacks sufficient site density/coverage to accurately reflect the genomic complexity of the β-locus
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A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
PMID 19693293 · PMC2728569 · Molecular vision · 2009 · 7 claims · 5 setups
A novel in-frame 51 bp deletion (c.526_576del51) in TACSTD2, causing loss of 17 amino acids (codons 176-192), was identified as homozygous in two affected brothers with GDLD.
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K-ras point mutation occurs in the early stage of carcinogenesis in lung cancer.
PMID 9514049 · PMC2149957 · British journal of cancer · 1998 · 6 claims · 4 setups
K-ras codon 12 mutation is present in all carcinoma lesions examined with no intratumour heterogeneity, consistent with an early carcinogenic event
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Lack of mutation at codon 531 of SRC in advanced colorectal cancers from Italian patients.
PMID 11161376 · PMC2363715 · British journal of cancer · 2001 · 6 claims · 4 setups
No SRC codon 531 mutation was detected in any of 155 Italian colorectal cancer cases (171 tissue specimens, primary tumours and liver metastases)
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ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.
PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups
A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent
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Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene.
PMID 12877753 · PMC184376 · BMC neurology · 2003 · 8 claims · 5 setups
A novel frameshift mutation (1902A insertion) in exon 17 of the Krit1 gene creates a premature TAA stop codon, predicting a truncated Y634X protein.
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The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures.
PMID 15799783 · PMC1079842 · BMC medical genetics · 2005 · 7 claims · 4 setups
The GABBR1 G1465A polymorphism is not associated with TLE preceded by febrile seizures, failing to replicate the prior positive association
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Frequency of single nucleotide polymorphisms in NOD1 gene of ulcerative colitis patients: a case-control study in the Indian population.
PMID 19723304 · PMC2748065 · BMC medical genetics · 2009 · 7 claims · 4 setups
Three NOD1 Exon 6 SNPs (W219R, L349P, L370R) show statistically significant association with ulcerative colitis compared to controls
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Differentiating human from animal isolates of Cryptosporidium parvum.
PMID 9866750 · PMC2640237 · Emerging infectious diseases · 1998 · 7 claims · 5 setups
Two distinct genotypes of C. parvum (human/anthroponotic and bovine/zoonotic) exist, distinguishable by TRAP-C2 gene sequence differences at five nucleotide positions.
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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups
21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.
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Large-scale analysis of mutations in RET exon 16 in sporadic medullary thyroid carcinomas in Japan.
PMID 11429053 · PMC5926749 · Japanese journal of cancer research : Gann · 2001 · 5 claims · 4 setups
RET exon 16 (codon 918) somatic mutations are rare in sporadic MTC among Japanese patients
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Alstrom syndrome (OMIM 203800): a case report and literature review.
PMID 18154657 · PMC2266715 · Orphanet journal of rare diseases · 2007 · 8 claims · 8 setups
The proband is a compound heterozygote for two novel ALMS1 mutations, V424I (exon 6) and H3882Y (exon 17), causative for Alstrom syndrome
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Elderly Japanese women with cervical carcinoma show higher proportions of both intermediate-risk human papillomavirus types and p53 mutations.
PMID 10098748 · PMC2362249 · British journal of cancer · 1999 · 8 claims · 3 setups
HPV DNA was detected in 44 of 46 (96%) cervical carcinomas from elderly women
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Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
PMID 10920277 · PMC5926416 · Japanese journal of cancer research : Gann · 2000 · 7 claims · 4 setups
Sequencing of all PTEN/MMAC1 coding regions identified five different germline mutations, four of them novel, in 5 of 12 unrelated Japanese CD patients
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A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
PMID 17517145 · PMC1890544 · BMC medical genetics · 2007 · 7 claims · 6 setups
A novel heterozygous missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in affected family members but not in 100 controls (200 chromosomes)
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Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 17515881 · PMC2669507 · Molecular vision · 2007 · 8 claims · 6 setups
Five RS1 mutations (c.574C>T, c.583A>G, c.608C>T, c.617G>A, c.637C>T) were identified in exon 6 of six unrelated Indian XLRS patients