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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B6

Variant:p.A302P

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HSD17B6

NM_003725.4:p.A302P

hg38:chr12:56787292 G>C

Associated Papers

P450c17 deficiency: clinical and molecular characterization of six patients.

Rosa S et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

17192295 (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."