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
A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.
PMID 35764878 · PMC9437031 · European journal of human genetics : EJHG · 2022 · 8 claims · 6 setups
HRAS c.466C>T p.(Phe156Leu) is a novel de novo pathogenic variant causing an attenuated Costello syndrome phenotype in two unrelated boys
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Differential recruitment of pre-mRNA splicing factors to alternatively spliced transcripts in vivo.
PMID 16231974 · PMC1262628 · PLoS biology · 2005 · 8 claims · 8 setups
Distinct combinations of pre-mRNA splicing factors are recruited to sites of alternatively spliced transcripts in intact cells, providing the first in vivo evidence for differential splicing factor association.
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Has reproduction
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
PMID 25914166 · PMC4830354 · American journal of medical genetics. Part A · 2015 · 7 claims · 8 setups
HRAS c.179G>A (p.Gly60Asp) causes an attenuated Costello syndrome phenotype without severe failure-to-thrive, intellectual disability, or cancer predisposition
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Full-text index only
Ethnic differences and functional analysis of MET mutations in lung cancer.
PMID 19723643 · PMC2767337 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 7 setups
MET mutations identified in lung tumors are predominantly germline rather than somatic
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Full-text index only
Comparative genomics and experimental promoter analysis reveal functional liver-specific elements in mammalian hepatic lipase genes.
PMID 17428321 · PMC1853088 · BMC genomics · 2007 · 8 claims · 7 setups
Cis-regulatory elements responsible for liver-specific HL expression are conserved among mammalian HL genes