Varaico: Literature-Extracted Genetic Variants

Gene:UPF1
Variant:p.G497R
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UPF1

NM_002911.4:p.G497R

Associated Papers

IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot-Marie-Tooth disease type 2 patients.

Liu L et al.

Neuromuscular Disorders : Nmd, 2017

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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."