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).

• Nicotinic acetylcholine receptor subunit variants are associated with blood pressure; findings in the Old Order Amish and replication in the Framingham Heart Study.

  PMID 18625075 · PMC2478679 · BMC medical genetics · 2008 · 7 claims · 5 setups

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  A synonymous coding SNP (rs2099489) in CHRNG is associated with higher systolic blood pressure in both the Old Order Amish (AFDS) and the Framingham Heart Study

  amish non-first-degree-relative afds framingham variance direct snp

• A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.

  PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups

  Full-text index only

  A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01

  family genomic pcr genetic direct allele-specific

• Identification of recombinant human papillomavirus type 16 variants.

  PMID 19758676 · PMC2769496 · Virology · 2009 · 8 claims · 5 setups

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  Concurrent infection with 8 HPV16 variants (1 prototype/European, 6 recombinant clones, plus later African-2) was detected in a single woman via PCR-based cloning and sequencing

  cervical pcr-based recombinant-specific direct

• The EPHA2 gene is associated with cataracts linked to chromosome 1p.

  PMID 19005574 · PMC2582197 · Molecular vision · 2008 · 5 claims · 5 setups

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  A heterozygous c.2842G>T (p.G948W) mutation in EPHA2 exon 17 causes autosomal dominant posterior polar cataracts in family Mu

  family case-control genome-wide str pcr

• Nucleotide sequence analyses of the MRP1 gene in four populations suggest negative selection on its coding region.

  PMID 16684361 · PMC1488846 · BMC genomics · 2006 · 8 claims · 5 setups

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  The coding region of MRP1 shows evidence of negative selection or recent population expansion based on nucleotide diversity statistics

  healthy mrp1 population novo population functional

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex

• Performance of mitochondrial DNA mutations detecting early stage cancer.

  PMID 18834532 · PMC2572633 · BMC cancer · 2008 · 8 claims · 6 setups

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  The Affymetrix MitoChip resequencing array is a high-throughput, higher-resolution alternative to capillary sequencing for detecting mtDNA point mutations and heteroplasmy in clinical specimens.

  matched blood mtdna low-quantity mitochondrial capillary str

• Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis.

  PMID 18802454 · PMC2527686 · PLoS genetics · 2008 · 8 claims · 6 setups

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  Three heterozygous missense mutations (p.M337V, p.N345K, p.I383V) in exon 6 of TARDBP were identified in familial ALS patients

  patients nd10588 lymphoblastoid neuroglioma sanger taqman copy-number

• Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling.

  PMID 19640284 · PMC2726130 · BMC medical genetics · 2009 · 7 claims · 4 setups

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  The retinoblastoma proband carries a novel constitutive RB1 mutation (g.2056C>G) at position -4 of the 5'UTR Kozak consensus sequence, absent in her father and unaffected sisters

  genomic proband's pcr rt-pcr multiplex

• Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.

  PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups

  Full-text index only

  A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals

  consanguineous same affected family sanger multiplex microsatellite

• Prediction of Antibiotic Susceptibility Profiles of Vibrio cholerae Isolates From Whole Genome Illumina and Nanopore Sequencing Data: CholerAegon.

  PMID 35814690 · PMC9257098 · Frontiers in microbiology · 2022 · 6 claims · 6 setups

  Has reproduction · 86

  CholerAegon, a Nextflow-based pipeline, predicts AMR profiles of V. cholerae from assembled genomes using CARD ontology

  vibrio assembled genome hybrid amr