Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.K536delFs
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SMCHD1

NM_015295.3:p.K536delFs

Associated Papers

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

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.

Lemmers RJ et al.

Nature Genetics, 2012

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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."