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).

Publications 1.3k Datasets 392.5k Experiments 4

System / cell line: mutation-positive ✕ Assay: region ✕ Clear

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 19921648 · PMC2787970 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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SOX2 coding-region mutations were identified in 10 of 51 (19.6%) unrelated individuals with anophthalmia/microphthalmia

blood parents sox2-mutation-positive pcr parental clinical
APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

PMID 7524601 · PMC2033526 · British journal of cancer · 1994 · 7 claims · 8 setups

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Chemical cleavage of mismatch (HOT) analysis combined with sequencing identified inactivating constitutional APC mutations in 9 of 10 (90%) linkage-confirmed FAP patients, far exceeding the ~30% detection rate reported in the literature.

blood pcr pcr-amplified cdna chemical sequencing single-strand
Pathogenic mitochondrial DNA mutations are common in the general population.

PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups

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At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers

neonatal independent m.1555a→g-positive mutation-positive high-throughput last-cycle cloning
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

PMID 19744334 · PMC2754984 · Journal of translational medicine · 2009 · 8 claims · 8 setups

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GJB2 mutations account for 18.31% (52/284) of patients with nonsyndromic hearing loss

peripheral patients mtdna slc26a4 pcr pcr-based sanger

Experiments

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

APC mutation analysis by chemical cleavage of mismatch and a protein truncation assay in familial adenomatous polyposis.

Pathogenic mitochondrial DNA mutations are common in the general population.

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.