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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NR0B1

Variant:p.D45delFs

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NR0B1

NM_000475.5:p.D45delFs

hg38:chrX:30309228 CAT>C

Associated Papers

A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.

Heo S et al.

Annals of Pediatric Endocrinology & Metabolism, 2024

38956756 (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."