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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD1

Variant:p.S244_A245ins9

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ABCD1

NM_000033.4:p.S244_A245ins9

hg38:chrX:153725996 T>TNNNNNNNNNNNNNNNNNNNNNNNNNNN

Associated Papers

A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.

Liu J et al.

Medicine, 2024

38640304 (PubMed )

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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."