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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMCHD1

Variant:p.Q193fs

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SMCHD1

NM_015295.3:p.Q193fs

hg38:chr18:2674084 CAG>N

Associated Papers

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon CT et al.

Nature Genetics, 2017

28067911 (PubMed )

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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."