Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.T82_G83delFs
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FGFR1

NM_023110.3:p.T82_G83delFs

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

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

Childhood growth of females with Kallmann syndrome and FGFR1 mutations.

Hero M et al.

Clinical Endocrinology, 2015

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

Laitinen EM et al.

Orphanet Journal of Rare Diseases, 2011

Genetic diagnosis of idiopathic hypogonadotrophic hypogonadism: a new point mutation in the KAL2 gene.

Entrala-Bernal C et al.

Hormones (athens, Greece), 0

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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."