Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.G425R
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SMCHD1

NM_015295.3:p.G425R

Associated Papers

Cardiac Involvement in Facioscapulohumeral Muscular Dystrophy (FSHD).

Ducharme-Smith A et al.

Frontiers in Neurology, 2021

Relating SMCHD1 structure to its function in epigenetic silencing.

Gurzau AD et al.

Biochemical Society Transactions, 2020

FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.

Mul K et al.

Neurology, 2018

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes.

Mason AG et al.

Skeletal Muscle, 2017

28587678 (PubMed )
Supplement: 13395_2017_129_MOESM1_ESM.pdf

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain.

Chen K et al.

The Biochemical Journal, 2016

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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."