Varaico: Literature-Extracted Genetic Variants

Gene:SMCHD1
Variant:p.S135I
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SMCHD1

NM_015295.3:p.S135I

Associated Papers

Relating SMCHD1 structure to its function in epigenetic silencing.

Gurzau AD et al.

Biochemical Society Transactions, 2020

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND et al.

Nature Genetics, 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."