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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD3B2

Variant:p.R93delFs

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HSD3B2

NM_000198.4:p.R93delFs

hg38:chr1:119419553 GA>G

Associated Papers

Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.

Katsumata N

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2007

24790347 (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."