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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GARS1

Variant:p.P152L

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GARS1

NM_002047.4:p.P152L

hg38:chr7:30601086 C>T

Associated Papers

A recurrent GARS mutation causes distal hereditary motor neuropathy.

Lee DC et al.

Journal of the Peripheral Nervous System : Jpns, 2019

31628756 (PubMed )

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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."