Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPU
Variant:p.V6delFs
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HNRNPU

NM_031844.3:p.V6delFs

Associated Papers

A novel PCDH19 missense mutation, c.812G>A (p.Gly271Asp), identified using whole-exome sequencing in a Chinese family with epilepsy female restricted mental retardation syndrome.

Zhao X et al.

Molecular Genetics & Genomic Medicine, 2020

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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."