Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.E473G
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SMCHD1

NM_015295.3:p.E473G

Associated Papers

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.

Mohassel P et al.

Neurology, 2022

A ubiquitin-like domain is required for stabilizing the N-terminal ATPase module of human SMCHD1.

Pedersen LC et al.

Communications Biology, 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."