Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.L1195del1
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SKIC2

NM_006929.5:p.L1195del1

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

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Alsaleem BM et al.

Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association, 0

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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."