Varaico: Literature-Extracted Genetic Variants

Gene:SKIC2
Variant:p.M734_G735Splc
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SKIC2

NM_006929.5:p.M734_G735Splc

Associated Papers

Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2.

Zhang Q et al.

Frontiers in Genetics, 2021

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

Rudilla F et al.

Frontiers in Immunology, 2019

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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."