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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCD1

Variant:p.G594Splc

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ABCD1

NM_000033.4:p.G594Splc

hg38:chrX:153742978 C>A

Associated Papers

A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

Zhang M et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2013

22964742 (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."