Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.R309Q
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KLB

NM_175737.4:p.R309Q

Associated Papers

Site-specific analysis and functional characterization of N-linked glycosylation for β-Klotho protein.

Geng L et al.

International Journal of Biological Macromolecules, 2025

Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.

Dwyer AA et al.

Frontiers in Endocrinology, 2022

36407308 (PubMed )
Supplement: Table_1.docx

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.

Xu C et al.

Embo Molecular Medicine, 2017

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