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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Mitochondrial D-loop mutations and deletion profiles of cancerous and noncancerous liver tissue in hepatitis B virus-infected liver.
PMID 15785740 · PMC2361973 · British journal of cancer · 2005 · 8 claims · 2 setups
D-loop mutation frequency is significantly higher in both noncancerous and tumour liver tissue of HCC/HBV patients than in normal control liver
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Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.
PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups
Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).
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Institutional Profile: The University of California Pharmacogenomics Center: at the interface of genomics, biological mechanisms and drug therapy.
PMID 19842929 · PMC2923222 · Pharmacogenomics · 2009 · 8 claims · 8 setups
Approximately 15-20% of nonsynonymous variants in membrane transporters exhibit reduced function
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Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.
PMID 19795005 · PMC2752790 · Journal of Korean medical science · 2009 · 7 claims · 6 setups
The patient has a homozygous D103N point mutation in the MC2R gene, with both parents heterozygous carriers
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Proteomics in alcohol research.
PMID 12875051 · PMC6683837 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2002 · 7 claims · 8 setups
The proteome is larger and more complex than the genome due to differential splicing, post-translational modifications (PTMs), and protein-protein interactions.
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Promoting human promoters.
PMID 16760901 · PMC1681504 · Molecular systems biology · 2006 · 8 claims · 5 setups
A computational protocol using MARS on known sequence motifs can quantify transcription factor effects on human gene expression despite noise and data size challenges
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Identification of ERGIC-53 as an intracellular transport receptor of alpha1-antitrypsin.
PMID 18283111 · PMC2265576 · The Journal of cell biology · 2008 · 8 claims · 6 setups
α1-antitrypsin is a novel ERGIC-53 cargo protein identified via a YFP protein-fragment complementation assay (PCA) cDNA library screen
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Proteomic approaches for studying alcoholism and alcohol-induced organ damage.
PMID 23584750 · PMC3860448 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 7 setups
Chronic alcohol abuse produces persistent changes in brain function (tolerance, dependence, craving) likely resulting from alterations in gene and protein expression
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Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
PMID 17436019 · PMC1914248 · Human genetics · 2007 · 7 claims · 8 setups
A homozygous 63.1-kb intragenic deletion in LARGE (exons 9-10) causes Walker-Warburg syndrome in a consanguineous Saudi family
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A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 19958498 · PMC2788387 · BMC genomics · 2009 · 8 claims · 4 setups
Comparative homology modeling of wild-type and mutant α-mannosidase across human, cow, cat and guinea pig reveals a significant correlation between genotype severity and phenotype severity in α-mannosidosis