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).

• A novel GJA8 mutation causing a recessive triangular cataract.

  PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups

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  A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.

  proband's blood-derived genomic family rt-pcr pcr restriction

• A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.

  PMID 18334966 · PMC2268715 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel 827C>T transition in GJA8 causes a serine-to-phenylalanine substitution (S276F) associated with dominant congenital pulverulent nuclear cataract in this Chinese family.

  lens excised blood wild-type slit-lamp scanning pcr

• A novel nonsense mutation in CRYBB1 associated with autosomal dominant congenital cataract.

  PMID 18432316 · PMC2324115 · Molecular vision · 2008 · 7 claims · 5 setups

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  A novel heterozygous nonsense mutation (c.C737T, p.Q223X) in CRYBB1 is responsible for autosomal dominant congenital nuclear cataract in this family.

  three-generation genomic crybb1 family genotyping direct restriction