Varaico: Literature-Extracted Genetic Variants

Gene:COMP
Variant:p.D743Splc
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COMP

NM_000095.3:p.D743Splc

Associated Papers

A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.

Jakkula E et al.

Journal of Medical Genetics, 2003

Identification of sequence polymorphisms of the COMP (cartilage oligomeric matrix protein) gene and association study in osteoarthrosis of the knee and hip joints.

Mabuchi A et al.

Journal of Human Genetics, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."