Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.S404*
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ABCD1

NM_000033.4:p.S404*

Associated Papers

Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Salsano E et al.

Orphanet Journal of Rare Diseases, 2012

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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."