Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.V497fs
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ABCD1

NM_000033.4:p.V497fs

Associated Papers

Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1.

Takegami N et al.

Internal Medicine (tokyo, Japan), 2024

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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."