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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD1

Variant:p.A388T

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ABCD1

NM_000033.4:p.A388T

hg38:chrX:153736192 G>A

Associated Papers

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.

Wang MW et al.

Journal of Neurology, 2023

37162580 (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."