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 "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.

  PMID 17615540 · PMC2768755 · Molecular vision · 2007 · 8 claims · 4 setups

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  A novel heterozygous C260T substitution in GJA3, causing a Thr87Met (T87M) change, is associated with a distinct 'pearl box' cataract phenotype in family CC-472.

  genomic patients connexin bidirectional restriction clinical

• Organization and evolution of the Cyp2 gene cluster on mouse chromosome 7, and comparison with the syntenic human cluster.

  PMID 14630516 · PMC1241748 · Environmental health perspectives · 2003 · 8 claims · 6 setups

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  The mouse Cyp2a-t cluster on chromosome 7 contains 22 loci from the same six CYP2 subfamilies (Cyp2a, Cyp2b, Cyp2f, Cyp2g, Cyp2s, Cyp2t) found in the human cluster

  genomic bac nine restriction bac pcr southern

• Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism.

  PMID 16404428 · PMC2361126 · British journal of cancer · 2006 · 6 claims · 5 setups

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  Somatic mtDNA mutations occur in renal cell carcinoma but are infrequent and frequently present at low (below 25%) heteroplasmy levels

  renal dhplc direct pcr-restriction

• 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

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  Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

  genomic pedigree proband pcr denaturing dhplc

• Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.

  PMID 11850598 · PMC3054831 · Journal of Korean medical science · 2002 · 7 claims · 5 setups

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  MELAS muscle shows strongly SDH-positive blood vessels (SSVs) and many COX-positive ragged-red fibers, while MERRF muscle shows neither SSVs nor COX-positive RRFs, giving distinct histochemical staining patterns between the two diseases.

  frozen muscle extracted pcr-amplified histochemical electron pcr-rflp

• Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

  PMID 20108460 · PMC5654072 · Journal of medicine and life · 2008 · 7 claims · 5 setups

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  Combined DGGE, ARMS-PCR and PCR-RFLP molecular testing accurately detects β-thalassemia mutations in fetal DNA obtained by amniocentesis or CVS

  fetal β-globin parental str denaturing amplification

• Sequence variations of GRM6 in patients with high myopia.

  PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups

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  Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls

  genomic pcr mglur6 grm6 pcr heteroduplex pcr-restriction

• Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

  PMID 19698114 · PMC2749045 · BMC infectious diseases · 2009 · 8 claims · 7 setups

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  Three PRNP mutations—D178N, E200K, and M232R—were identified in heterozygosity in Korean probable CJD patients, marking their first report in this population.

  csf 293t genomic pcr western recombinant sequencing

• Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations.

  PMID 15984912 · PMC1166350 · PLoS biology · 2005 · 8 claims · 6 setups

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  Most mtDNA lineages in Taiwanese aboriginal populations are distinct from those in China and the Taiwan Han population, consistent with descent from the island's initial late Pleistocene settlers

  indigenous b4a-lineage southeast populations mtdna complete rflp