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kniest dysplasia
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COL2A1
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia
Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population
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COL2A1
Somatic tumors
chondrosarcoma, enchondroma
Tumor types germline
Cancer Syndrom
Translocation partner
Name
collagen, type II, alpha 1
Chromosome banding
12q13.11
Cancer molecular gen.
Rec
Mutation type
F, Mis, N, T
Other syndrome disease
Spondyloepiphyseal Dysplasia Congenita, Achondrogenesis Type II, Stickler Syndrome, Type I and others
Definition
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Pathways
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