Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G288S
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COL2A1

NM_001844.5:p.G288S

Associated Papers

Premature osteoarthritis as presenting sign of type II collagenopathy: a case report and literature review.

Husar-Memmer E et al.

Seminars in Arthritis and Rheumatism, 2013

Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.

Zhang Z et al.

Biochemical and Biophysical Research Communications, 2011

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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."