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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATRN

Variant:p.L1023Splc

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ATRN

NM_001207047.3:p.L1023Splc

hg38:chr20:3594577 G>A

Associated Papers

Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

Shahrour MA et al.

Neurogenetics, 2017

28493104 (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."