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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPRS1

Variant:p.N71Y

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EPRS1

NM_004446.3:p.N71Y

hg38:chr1:220034934 T>A

Associated Papers

Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?

Zhang H et al.

Journal of Neurochemistry, 2021

33236345 (PubMed )

Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.

Datt M et al.

Bmc Genomics, 2014

25476837 (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."