Varaico: Literature-Extracted Genetic Variants

Gene:MYPN
Variant:p.P768delFs
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MYPN

NM_032578.4:p.P768delFs

Associated Papers

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.

Polavarapu K et al.

Journal of Clinical Neurology (seoul, Korea), 2021

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.

Merlini L et al.

Skeletal Muscle, 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."