Varaico: Literature-Extracted Genetic Variants

Gene:SKIC3
Variant:p.A1143fs
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SKIC3

NM_014639.4:p.A1143fs

Associated Papers

Clinical features and lymphocyte immunophenotyping analysis in primary immunodeficiency patients with non-transplant lymphoproliferative disorders.

Lee WI et al.

Clinical Immunology (orlando, Fla.), 2024

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

Bourgeois P et al.

Human Mutation, 2018

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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."