Varaico: Literature-Extracted Genetic Variants

Gene:COG1
Variant:p.R425Q
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COG1

NM_018714.3:p.R425Q

Associated Papers

A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.

Ma D et al.

Molecular Genetics & Genomic Medicine, 2019

31566921 (PubMed )
Supplement: MGG3-7-e976-s001.xlsx › Sheet1
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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."