Varaico: Literature-Extracted Genetic Variants

Gene:KLB
Variant:p.F777del1
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KLB

NM_175737.4:p.F777del1

Associated Papers

Reproductive Phenotypes and Genotypes in Men With IHH.

Dwyer AA et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_2

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."