Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.M501fs
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ABCD1

NM_000033.4:p.M501fs

Associated Papers

Nationwide Study of the Epidemiology and Clinical Features of X-Linked Adrenoleukodystrophy in Denmark.

Videbæk CS et al.

Molecular Genetics and Metabolism, 2025

A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.

Wang J et al.

Medicine, 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."