Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.R163G
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ABCD1

NM_000033.4:p.R163G

Associated Papers

A female adult-onset X-ALD patient with pure cerebellar symptoms:a case report.

Qi W et al.

Heliyon, 2024

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.

Ogaki K et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2016

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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."