Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.R479L
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SMCHD1

NM_015295.3:p.R479L

Associated Papers

Relating SMCHD1 structure to its function in epigenetic silencing.

Gurzau AD et al.

Biochemical Society Transactions, 2020

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.

Nguyen K et al.

Human Mutation, 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."