Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.A100fs
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ABCD1

NM_000033.4:p.A100fs

Associated Papers

Isolated cerebellar variant of adrenoleukodystrophy with a de novo adenosine triphosphate-binding cassette D1 (ABCD1) gene mutation.

Kang JW et al.

Yonsei Medical Journal, 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."