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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SKIC3

Variant:p.Y728fs

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SKIC3

NM_014639.4:p.Y728fs

hg38:chr5:95517253 A>AN

Associated Papers

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

Kristal E et al.

Immunologic Research, 2022

35776314 (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."