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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD1

Variant:p.S572L

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ABCD1

NM_000033.4:p.S572L

hg38:chrX:153740654 C>T

Associated Papers

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2016

27302843 (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."