Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S346_I347insFs
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FGFR1

NM_023110.3:p.S346_I347insFs

Associated Papers

Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients.

Nie M et al.

Clinical Endocrinology, 2021

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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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."