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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIMP1

Variant:p.V96_I97del2

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AIMP1

NM_001142416.2:p.V96_I97del2

hg38:chr4:106328137 TGTGATA>T

Associated Papers

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Mendes MI et al.

Annals of Clinical and Translational Neurology, 2020

31814314 (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."