Varaico: Literature-Extracted Genetic Variants

Gene:AARS2
Variant:p.P729S
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AARS2

NM_020745.4:p.P729S

Associated Papers

A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

McLaughlin HM et al.

Human Mutation, 2012

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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."