Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.D281fs
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COL9A2

NM_001852.4:p.D281fs

Associated Papers

Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F et al.

American Journal of Medical Genetics. Part A, 2014

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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."