Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R113H
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ABCD1

NM_000033.4:p.R113H

Associated Papers

Correlation Between Genotype and Age of Onset in Leukoencephalopathy With Vanishing White Matter.

Deng J et al.

Frontiers in Genetics, 2021

34745209 (PubMed )
Supplement: Table1.DOCX

Adulthood leukodystrophies.

Köhler W et al.

Nature Reviews. Neurology, 2018

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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."