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).

• The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter.

  PMID 19050890 · PMC2690858 · Annals of hematology · 2009 · 7 claims · 7 setups

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  HBG2:g.-109G>T is a novel promoter mutation causing a distinct ('Hellenic type') nd-HPFH

  peripheral genomic nuclear mel cation reverse-phase denaturing

• Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

  PMID 15287992 · PMC509248 · BMC medical genetics · 2004 · 8 claims · 7 setups

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  A CF-causing second mutation (c.3199del6 or the novel c.3395insA) was found in cis with p.I148T in all CF patients in this cohort who carried p.I148T

  genomic family chromosomes hela dgge oligonucleotide restriction

• Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

  PMID 19818657 · PMC2818284 · Blood cells, molecules & diseases · 2010 · 8 claims · 5 setups

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  Common TMPRSS6 polymorphisms (K253E, V736A) are not risk factors for iron deficiency anemia in the general population

  white iron-refractory pcr hepg2 complete direct allele-specific

• Computational comparison of two mouse draft genomes and the human golden path.

  PMID 12537546 · PMC151282 · Genome biology · 2003 · 8 claims · 7 setups

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  The Celera and public mouse genome assemblies differ in about 10% of the mouse genome, with complementary strengths (Celera higher base-pair accuracy and overall coverage; public assembly higher quality in some finished BAC regions and freely accessible)

  newly genome chromosome genomic blat blastn repeat

• Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

  PMID 16319823 · PMC1477589 · European journal of human genetics : EJHG · 2006 · 7 claims · 8 setups

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  ALX4 and MSX2 mutations contribute approximately equally to PFM/CB and cause skull defects that are usually clinically indistinguishable

  pfm selected point-mutation-negative family dhplc bidirectional multiplex