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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AIMP1

Variant:p.P292_F293del2

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AIMP1

NM_001142416.2:p.P292_F293del2

hg38:chr4:106347624 GTTCCCT>G

Associated Papers

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.

Hori I et al.

Brain & Development, 2021

33402283 (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."