Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.K321delFs
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FGFR1

NM_023110.3:p.K321delFs

Associated Papers

FGFR1-related congenital hypogonadotropic hypogonadism: a case report and literature review.

Sun M et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2025

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL et al.

European Journal of Endocrinology, 2019

Childhood growth of females with Kallmann syndrome and FGFR1 mutations.

Hero M et al.

Clinical Endocrinology, 2015

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys.

Vizeneux A et al.

Plos One, 2013

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

Laitinen EM et al.

Orphanet Journal of Rare Diseases, 2011

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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."