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 · 84
Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
PMID 35296718 · PMC8927422 · Scientific reports · 2022 · 8 claims · 8 setups
Four FBN1-negative patients from three families with a MASS-like phenotype carry likely pathogenic or uncertain-significance missense variants in the propeptide-coding regions of COL2A1
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A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan.
PMID 19014451 · PMC2592245 · BMC medical genetics · 2008 · 7 claims · 4 setups
A novel nonsense mutation c.1213C>T (p.Arg405X) in exon 11 of HSF4 causes autosomal recessive congenital cataracts in family BUIT-CA01
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Has reproduction · 79
Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.
PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 8 claims · 8 setups
Meta-analysis confirmed a positive association between DED and DEP occurrence
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Expression genomics in breast cancer research: microarrays at the crossroads of biology and medicine.
PMID 17397520 · PMC1868923 · Breast cancer research : BCR · 2007 · 8 claims · 8 setups
Genome-wide expression microarray studies reveal transcriptional networks/signatures that explain breast cancer biological and clinical heterogeneity
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Discovery and validation of new molecular targets in treating dyslipidemia: the role of human genetics.
PMID 20211435 · PMC3328807 · Trends in cardiovascular medicine · 2009 · 8 claims · 8 setups
Mendelian randomization uses genetic variants as a 'randomized trial of nature' to assess causal relationships between lipid biomarkers and CHD, overcoming confounding and reverse causality limitations of observational epidemiology.