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).
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Has reproduction · 83
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.
PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups
A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.
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Has reproduction
Pleiotropic effects of MORC2 derive from its epigenetic signature.
PMID 40302207 · PMC12782172 · Brain : a journal of neurology · 2026 · 8 claims · 8 setups
A MORC2-specific DNA methylation episignature exists that is universal across all MORC2-associated phenotypes and conserved across blood and fibroblast tissue
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Full-text index only
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
PMID 19890111 · PMC2787406 · The New England journal of medicine · 2009 · 8 claims · 8 setups
Homozygous loss-of-function mutations in IL10RA or IL10RB cause severe early-onset enterocolitis
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Full-text index only
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
Four novel JARID1C mutations (p.A77T, p.V504M, p.E468GfsX2, p.R1481GfsX9) were identified in males with mental retardation across three screened cohorts.