Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.Q40*
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HUWE1

NM_031407.7:p.Q40*

Associated Papers

Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.

Akin-Bali DF

Ophthalmic Genetics, 2021

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Tarpey PS et al.

Nature Genetics, 2009

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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."