Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.I347fs
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FGFR1

NM_023110.3:p.I347fs

Associated Papers

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Correa FA et al.

European Journal of Human Genetics : Ejhg, 2026

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.

Stamou MI et al.

Journal of the Endocrine Society, 2024

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

Xu C et al.

Embo Molecular Medicine, 2017

28754744 (PubMed )
Supplement: EMMM-9-1379-s001.pdf
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