Varaico: Literature-Extracted Genetic Variants

Gene:MT1A
Variant:p.C50G
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MT1A

NM_005946.3:p.C50G

Associated Papers

Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.

Evans BR et al.

American Journal of Human Genetics, 2012

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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."