Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.W4*
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FGFR1

NM_023110.3:p.W4*

Associated Papers

Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.

Sheng H et al.

Orphanet Journal of Rare Diseases, 2025

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.

Akkuş G et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

Laitinen EM et al.

Orphanet Journal of Rare Diseases, 2011

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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."