Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.L347F
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SHBG

NM_001040.5:p.L347F

Associated Papers

Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from China

Li Y et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

[A clinical and genetic analysis of a pedigree with two 46,XY patients suffering from 17alpha-hydroxylase deficiency].

Liang J et al.

Zhonghua Nei Ke Za Zhi, 2008

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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."