Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A223D
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ABCD1

NM_000033.4:p.A223D

Associated Papers

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

Zhang Y et al.

Genes & Diseases, 2021

Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

Triantafyllou P et al.

Pediatric Neurology, 2014

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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."