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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Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing.
PMID 11710958 · PMC59832 · BMC genetics · 2001 · 7 claims · 6 setups
DHPLC screening combined with direct sequencing detects likely disease-causative point mutations in the dystrophin gene missed by multiplexed PCR deletion/duplication testing
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Genome amplification of single sperm using multiple displacement amplification.
PMID 15942023 · PMC1143700 · Nucleic acids research · 2005 · 8 claims · 7 setups
MDA was applied for the first time to whole-genome amplification of single sperm cell DNA
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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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Has reproduction · 88
CIRCprimerXL: Convenient and High-Throughput PCR Primer Design for Circular RNA Quantification.
PMID 36304334 · PMC9580850 · Frontiers in bioinformatics · 2022 · 8 claims · 5 setups
CIRCprimerXL is a high-throughput, user-friendly circRNA RT-qPCR primer design pipeline available as both a web tool and a standalone Nextflow/Docker pipeline
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Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
PMID 10188893 · PMC2362698 · British journal of cancer · 1999 · 7 claims · 7 setups
Presence of at least one ovarian cancer case in a small family strongly predicts finding a BRCA1 or BRCA2 mutation.
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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
PMID 18803811 · PMC2556318 · BMC medical genetics · 2008 · 8 claims · 7 setups
CDKN2A germline mutations were found in 7 of 25 (28.0%) Slovenian melanoma families
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The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
PMID 18781223 · PMC2532703 · Molecular vision · 2008 · 8 claims · 4 setups
None of the three MFRP sequence variants tested (rs3814762, rs36015759, rs2510143) showed a statistically significant association with acute angle-closure glaucoma
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Population study of 1311 C/T polymorphism of Glucose 6 Phosphate Dehydrogenase gene in Pakistan - an analysis of 715 X-chromosomes.
PMID 19640310 · PMC2725355 · BMC genetics · 2009 · 8 claims · 4 setups
1311T is a frequent polymorphism in Pakistan both in subjects carrying G6PD Mediterranean mutation and in the general population
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HFE H63D mutation frequency shows an increase in Turkish women with breast cancer.
PMID 16503999 · PMC1402308 · BMC cancer · 2006 · 6 claims · 2 setups
HFE H63D allele frequency is significantly higher in Turkish breast cancer patients (22.2%) than in healthy controls (14%)
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TP53 intron 6 polymorphism and the risk of ovarian and breast cancer.
PMID 9484829 · PMC2149940 · British journal of cancer · 1998 · 5 claims · 2 setups
The N' allele (G-to-A variant) is significantly more prevalent in ovarian cancer patients than in controls (P=0.01)
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Prognostic significance of p53 and ras gene abnormalities in lung adenocarcinoma patients with stage I disease after curative resection.
PMID 7852188 · PMC5919395 · Japanese journal of cancer research : Gann · 1994 · 6 claims · 5 setups
Presence of p53 gene abnormalities is associated with shorter disease-free survival in stage I lung adenocarcinoma
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WAF1/CIP1 structural abnormalities do not contribute to cell cycle deregulation in ovarian cancer.
PMID 8645586 · PMC2074480 · British journal of cancer · 1996 · 7 claims · 5 setups
No WAF1/CIP1 coding mutations were found in any of 36 ovarian carcinomas sequenced, including tumors with LOH on 6p and those lacking p53 mutations
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The (CTG)n polymorphism in the NOTCH4 gene is not associated with schizophrenia in Japanese individuals.
PMID 11407996 · PMC32311 · BMC psychiatry · 2001 · 6 claims · 4 setups
No significant differences in genotype or allele frequencies of the NOTCH4 (CTG)n repeat were found between schizophrenia patients and controls
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Association between telomere length and V(H) gene mutation status in chronic lymphocytic leukaemia: clinical and biological implications.
PMID 12592375 · PMC2377180 · British journal of cancer · 2003 · 7 claims · 5 setups
Unmutated VH gene CLL cases have significantly shorter telomeres than mutated VH gene CLL cases
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CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity.
PMID 15507145 · PMC526769 · BMC medical genetics · 2004 · 8 claims · 7 setups
PCR amplification and sequencing of CLC-2 revealed 1 SNP in the promoter, 4 SNPs in intron 1, and none in exon 20
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High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.
PMID 16168118 · PMC1242140 · Breast cancer research : BCR · 2005 · 8 claims · 4 setups
BRCA1 c.5266dupC (5382insC) is the dominant recurrent mutation driving hereditary breast/ovarian cancer in this Czech population
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A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan.
PMID 17187665 · PMC1764029 · BMC neurology · 2006 · 6 claims · 4 setups
The G2385R variant in LRRK2 contributes significantly to the etiology of PD in ethnic Han Chinese individuals
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Deletion of the V2 vasopressin receptor gene in two Chinese patients with nephrogenic diabetes insipidus.
PMID 17101063 · PMC1657029 · BMC genetics · 2006 · 7 claims · 6 setups
The two NDI patients carry a 5,995-bp genomic deletion combined with a 3-bp (GAG) insertion at Xq28 that removes the entire AVPR2 gene and the last exon (exon 22) of the C1 (ARHGAP4) gene.
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The evolution and genomic landscape of CGB1 and CGB2 genes.
PMID 17055150 · PMC2599907 · Molecular and cellular endocrinology · 2007 · 8 claims · 5 setups
CGB1 and CGB2 arose via insertion of a DNA fragment (736/724 bp) replacing part of the ancestral hCGβ promoter and 5'-UTR, creating a novel exon 1 and causing a frameshift that produces a completely different 132-aa protein unrelated to hCGβ
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Design factors that influence PCR amplification success of cross-species primers among 1147 mammalian primer pairs.
PMID 17029642 · PMC1635982 · BMC genomics · 2006 · 8 claims · 7 setups
The number of index-species (IS) mismatches in a primer pair significantly reduces amplification success, with an estimated 6-8% decrease in success rate per additional mismatch.