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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MTMR14

Variant:p.C330S

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MTMR14

NM_001077525.3:p.C330S

hg38:chr3:9684608 T>A

Associated Papers

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Tosch V et al.

Human Molecular Genetics, 2006

17008356 (PubMed )

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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."