Varaico: Literature-Extracted Genetic Variants

Gene:SHBG
Variant:p.P185L
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SHBG

NM_001040.5:p.P185L

Associated Papers

Genetic SHBG Deficiency Unmasks the Discrepancy Between Biochemical and Clinical Hypogonadism.

Manz XD et al.

Jcem Case Reports, 2025

Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.

Chen R et al.

Genome Biology, 2025

Exome sequencing and analysis of 454,787 UK Biobank participants.

Backman JD et al.

Nature, 2021

34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST6

Homozygous SHBG Variant (rs6258) Linked to Gonadotropin-Independent Precocious Puberty in a Young Girl.

Andriessen VC et al.

Journal of the Endocrine Society, 2021

Genetics of Sex Hormone-Binding Globulin and Testosterone Levels in Fertile and Infertile Men of Reproductive Age.

Grigorova M et al.

Journal of the Endocrine Society, 2017

CYP3A variation, premenopausal estrone levels, and breast cancer risk.

Johnson N et al.

Journal of the National Cancer Institute, 2012

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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."