Varaico: Literature-Extracted Genetic Variants

Gene:OBSCN
Variant:p.E268*
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OBSCN

NM_001386125.1:p.E268*

Associated Papers

A novel missense mutation in obscurin gene in a Chinese consanguineous family with left ventricular noncompaction.

Dong XQ et al.

Journal of Geriatric Cardiology : Jgc, 2022

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Forleo C et al.

Plos One, 2017

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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."