Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S633S
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ABCD1

NM_000033.4:p.S633S

Associated Papers

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt SIW et al.

Genes, 2021

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

Montagna G et al.

Human Mutation, 2005

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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."