Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.A336T
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COL9A2

NM_001852.4:p.A336T

Associated Papers

Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.

Susic S et al.

Clinical Genetics, 1997

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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."