Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.L605P
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ABCD1

NM_000033.4:p.L605P

Associated Papers

Insights From Minnesota on Newborn Screening for Adrenoleukodystrophy: A 5-Year Update.

Rayannavar A et al.

American Journal of Medical Genetics. Part A, 2025

ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.

Niu YF et al.

Gene, 2013

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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."