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 Twinkle (PEO1) gene mutation in a Chinese family with adPEO.

  PMID 18989381 · PMC2579934 · Molecular vision · 2008 · 8 claims · 5 setups

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  Two-point linkage analysis maps this Chinese adPEO family to the PEO1 (Twinkle) locus on chromosome 10q23.3-24.3, with the other three candidate genes excluded.

  members family biceps proband two-point direct muscle

• Expanding CEP290 mutational spectrum in ciliopathies.

  PMID 19764032 · PMC4340070 · American journal of medical genetics. Part A · 2009 · 7 claims · 4 setups

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  A large heterozygous genomic deletion spanning the CEP290 C-terminus (exons 42-54) was identified in a JSRD-COR patient previously known to carry only one CEP290 point mutation.

  peripheral genomic quantitative cdna pcr

• A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

  PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

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  A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

  patients family genomic clinical microsatellite two-point

• Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients.

  PMID 15833136 · PMC1097718 · BMC cancer · 2005 · 8 claims · 6 setups

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  A 250 Kbp deletion spanning intron 5 to beyond exon 15 of APC was identified in one FAP patient using MLPA, karyotyping, and FISH.

  genomic peripheral metaphase dhplc sequencing rt-pcr

• Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

  PMID 15701167 · PMC551615 · BMC medical genetics · 2005 · 8 claims · 6 setups

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  21 rare sequence variations of the LDL receptor gene were identified in St.-Petersburg FH patients, 19 of which are probably pathogenic and 2 (P518P, T705I) neutral.

  genomic pcr proband restriction sscp automated

• Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia.

  PMID 18697827 · PMC3711528 · Journal of medical genetics · 2008 · 8 claims · 8 setups

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  Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.

  genomic family carrier jarid1c dhplc allele-specific restriction