Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.K533R
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ABCD1

NM_000033.4:p.K533R

Associated Papers

A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.

Zhang Y et al.

Genes & Diseases, 2021

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Richter JE et al.

Case Reports in Genetics, 2020

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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."