Varaico: Literature-Extracted Genetic Variants

Gene:PMEL
Variant:p.V21insFs
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PMEL

NM_001384361.1:p.V21insFs

Associated Papers

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

Wei X et al.

European Journal of Human Genetics : Ejhg, 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."