Varaico: Literature-Extracted Genetic Variants

Gene:COL11A1
Variant:p.G910C
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COL11A1

NM_001854.4:p.G910C

Associated Papers

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

Tysoe C et al.

Qjm : Monthly Journal of the Association of Physicians, 2003

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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."