Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.Q888delFs
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SKIC3

NM_014639.4:p.Q888delFs

Associated Papers

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

Bourgeois P et al.

Human Mutation, 2018

Syndromic diarrhea/Tricho-hepato-enteric syndrome.

Fabre A et al.

Orphanet Journal of Rare Diseases, 2013

SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

Fabre A et al.

American Journal of Human 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."