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).

Publications 1.3k Datasets 392.5k Experiments 5

System / cell line: family ✕ Assay: antigen ✕ Clear

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

PMID 18433462 · PMC2632602 · Journal of thrombosis and haemostasis : JTH · 2008 · 6 claims · 6 setups

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A novel 14 bp deletion in intervening sequence L (putative branch point of intron L), which likely impairs PROS1 pre-mRNA splicing, was found in all family members with low free protein S.

plasma genomic apc free ps-direct
Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.

PMID 11250722 · PMC138789 · Breast cancer research : BCR · 2000 · 8 claims · 8 setups

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BRCA1 and BRCA2 mutations confer an 80-85% lifetime risk (by age 80) of female breast cancer

normal affected women brca1 clonogenic germline mammographic
Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

PMID 17713557 · PMC2435172 · Genes and immunity · 2007 · 7 claims · 8 setups

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SNPs in LECT2 and TGFBI show independent associations with the DTH+ phenotype, indicating two separate genes in this region control DTH+

blood family unrelated subjects snp family-based linkage
Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.

PMID 19949684 · PMC2775876 · Journal of Korean medical science · 2009 · 7 claims · 6 setups

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A novel de novo heterozygous FGG mutation (c.1007T>C) causing γ Met310Thr substitution was identified in a Korean patient, named 'fibrinogen Yecheon'

plasma coagulation fibrinogen pcr
ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.

PMID 14617382 · PMC305365 · BMC genetics · 2003 · 8 claims · 7 setups

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A novel O1v-A2 hybrid allele, containing four missense mutations, causes the A weak B phenotype in five individuals of African descent

genomic red computational abo sequencing blood

Experiments

Late onset thrombosis in a case of severe protein S deficiency due to compound heterozygosity for PROS1 mutations.

Future possibilities in the prevention of breast cancer: intervention strategies in BRCA1 and BRCA2 mutation carriers.

Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

Fibrinogen Yecheon: congenital dysfibrinogenemia with gamma methionine-310 to threonine substitution.

ABO exon and intron analysis in individuals with the AweakB phenotype reveals a novel O1v-A2 hybrid allele that causes four missense mutations in the A transferase.