Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHM1
Variant:p.E719delFs
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PLEKHM1

NM_014798.3:p.E719delFs

Associated Papers

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.

Korover N et al.

Biological Research, 2023

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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."