Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.K815E
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KLB

NM_175737.4:p.K815E

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

Gene-environment interaction in functional hypothalamic amenorrhea.

Barbagallo F et al.

Frontiers in Endocrinology, 2024

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

Delaney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT179_Mutations

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

Xu C et al.

Embo Molecular Medicine, 2017

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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."