Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.G260R
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FGFR1

NM_023110.3:p.G260R

Associated Papers

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.

Yang YF et al.

Asian Journal of Andrology, 2024

Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations.

Li S et al.

Reproductive Sciences (thousand Oaks, Calif.), 2021

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD

Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations.

Li S et al.

International Journal of Endocrinology, 2020

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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."