Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.T695I
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FGFR1

NM_023110.3:p.T695I

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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.

Nair S et al.

Clinical Endocrinology, 2016

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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."