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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMCHD1

Variant:p.L194insFs

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SMCHD1

NM_015295.3:p.L194insFs

hg38:chr18:2674087 C>CT

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

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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."