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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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
PMID 18977788 · PMC2743849 · The British journal of ophthalmology · 2009 · 7 claims · 5 setups
ABCA4 carrier-frequency-based prevalence estimates of arSTGD (1:1000 and 1:870) are substantially higher than the previously reported phenotypic prevalence of 1:10,000
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Low frequency of E-cadherin alterations in familial breast cancer.
PMID 11305955 · PMC30704 · Breast cancer research : BCR · 2001 · 8 claims · 5 setups
No pathogenic germline E-cadherin mutations were found in 19 familial breast cancer patients whose tumours showed LOH at the E-cadherin locus
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New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.
PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups
DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients
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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups
Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A
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A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
PMID 18246032 · PMC2267738 · Molecular vision · 2008 · 8 claims · 6 setups
A novel c.812G>T transversion in exon 9 of FRMD7, causing p.C271F, is the causative mutation for XLICN in this family