Varaico: Literature-Extracted Genetic Variants

Gene:MAL
Variant:p.A109D
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MAL

NM_002371.4:p.A109D

Associated Papers

Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.

Elpidorou M et al.

European Journal of Human Genetics : Ejhg, 2022

Emerging cellular themes in leukodystrophies.

Nowacki JC et al.

Frontiers in Cell and Developmental Biology, 2022

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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."