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oi type iv
Add Custom Markers
Pathways
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Cancer Gene Census
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COL1A1
Somatic tumors
DFSP, aneurysmal bone cyst
Tumor types germline
Cancer Syndrom
Translocation partner
PDGFB, USP6
Name
collagen, type I, alpha 1
Chromosome banding
17q21.31-q22
Cancer molecular gen.
Dom
Mutation type
T
Other syndrome disease
Osteogenesis imperfecta
Definition
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PubMed Links
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COL1A1
Regulation of type I collagen genes expression.
Influence of polymorphisms in VDR and COLIA1 genes on the risk of osteoporotic fractures in aged men
Clinical Trials
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External
Urinary Biomarkers of OI Pathobiology