Varaico: Literature-Extracted Genetic Variants

Gene:AARS1
Variant:p.K967M
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AARS1

NM_001605.3:p.K967M

Associated Papers

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

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."