Varaico: Literature-Extracted Genetic Variants

Gene:MYZAP
Variant:p.S79*
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MYZAP

NM_001018100.5:p.S79*

Associated Papers

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy.

Maver A et al.

Cold Spring Harbor Molecular Case Studies, 2022

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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."