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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSD17B6

Variant:p.V173E

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HSD17B6

NM_003725.4:p.V173E

hg38:chr12:56782178 T>A

Associated Papers

Novel rapid molecular diagnosis methods for comprehensive genetic analysis of 21-hydroxylase deficiency.

Xia Y et al.

Orphanet Journal of Rare Diseases, 2024

39468716 (PubMed )

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.

Tang P et al.

Frontiers in Endocrinology, 2023

36992809 (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."