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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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups
A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family
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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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Has reproduction · 100
Shiny-Calorie: a context-aware application for indirect calorimetry data analysis and visualization using R.
PMID 41640623 · PMC12867577 · Bioinformatics advances · 2026 · 8 claims · 8 setups
Shiny-Calorie is an open-source interactive application for transparent data and metadata integration, statistical analysis, and visualization of indirect calorimetry datasets.
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Multiple epiphyseal dysplasia.
PMID 19995321 · PMC2823319 · Acta orthopaedica · 2009 · 8 claims · 4 setups
An exon 3/intron 3 donor splice mutation (IVS3DS [+2] T>C) in COL9A2 was identified in all affected family members
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Mosaicism in von Hippel-Lindau disease: an event important to recognize.
PMID 18205710 · PMC4401302 · Journal of cellular and molecular medicine · 2007 · 7 claims · 5 setups
The proband's father is a somatic mosaic for a VHL missense mutation (R161Q), explaining his mild, late-onset phenotype compared to his daughter's severe early-onset disease.