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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B2

Variant:p.G226_N227insFs

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HSD3B2

NM_000198.4:p.G226_N227insFs

hg38:chr1:119422179 C>CAA

Associated Papers

Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.

Guran T et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

31950145 (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."