Varaico: Literature-Extracted Genetic Variants

Gene:MYOD1
Variant:p.P186insFs
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MYOD1

NM_002478.5:p.P186insFs

Associated Papers

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Mensah MA et al.

Nature, 2023

A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy.

Shukla A et al.

Clinical Genetics, 2019

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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."