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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR0B1

Variant:p.P335delFs

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NR0B1

NM_000475.5:p.P335delFs

hg38:chrX:30308358 CG>C

Associated Papers

Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review.

Wang Y et al.

Experimental and Therapeutic Medicine, 2022

36160878 (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."