Varaico: Literature-Extracted Genetic Variants

Gene:MYOD1
Variant:p.A162V
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MYOD1

NM_002478.5:p.A162V

Associated Papers

Whole-exome sequencing for variant discovery in blepharospasm.

Tian J et al.

Molecular Genetics & Genomic Medicine, 2018

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1439.518

VarRanker: rapid prioritization of sequence variations associated with human disease.

O'Fallon BD et al.

Bmc Bioinformatics, 2013

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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."