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).

• A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation.

  PMID 11476670 · PMC35353 · BMC genetics · 2001 · 8 claims · 7 setups

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  The Q279R missense mutation acts as a splicing mutation in vivo, causing skipping of exon 9 (alone or with exon 8) rather than simply altering the encoded amino acid.

  microdissected resected non-tumor liver pcr-rflp immunohistochemistry western

• A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

  PMID 19728872 · PMC2745377 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  A novel homozygous missense mutation, c.1922G>A (p.Arg641His), in MANBA was identified in a patient with severe neurological disease featuring pyramidal and cerebellar involvement, a phenotype not previously reported in β-mannosidosis.

  family hek293t lymphoid pcr-amplified fluorometric site-directed western

• Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

  PMID 16405730 · PMC1343542 · BMC medical genetics · 2006 · 8 claims · 4 setups

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  Germline mutations of SDHB and SDHC play a minor role in sporadic head and neck paraganglioma

  peripheral genomic ebv-transformed conformation pira-pcr rt-pcr