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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GOSR1

Variant:p.S60delFs

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GOSR1

NM_001007025.2:p.S60delFs

hg38:chr17:30484246 GC>G

Associated Papers

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Krone N et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

22162478 (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."