Varaico: Literature-Extracted Genetic Variants

Gene:NT5C2
Variant:p.R442H
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NT5C2

NM_001351169.2:p.R442H

Associated Papers

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

Verdura E et al.

Annals of Clinical and Translational Neurology, 2020

31854126 (PubMed )
Supplement: ACN3-7-105-s001.docx
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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."