Varaico: Literature-Extracted Genetic Variants

Gene:FEZF1
Variant:p.H278Y
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FEZF1

NM_001024613.4:p.H278Y

Associated Papers

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.

Al Sayed Y et al.

European Journal of Human Genetics : Ejhg, 2023

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.

Turan I et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Mutations in FEZF1 cause Kallmann syndrome.

Kotan LD et al.

American Journal of Human Genetics, 2014

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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."