Varaico: Literature-Extracted Genetic Variants

Gene:MAGEA3
Variant:p.S152I
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MAGEA3

NM_005362.4:p.S152I

Associated Papers

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

Sun Y et al.

American Journal of Human Genetics, 2010

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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."