Varaico: Literature-Extracted Genetic Variants

Gene:FGF8
Variant:p.E176K
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FGF8

NM_033163.5:p.E176K

Associated Papers

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism

Çiftci N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism.

Men M et al.

Fertility and Sterility, 2020

Genomic Analysis of Korean Patient With Microcephaly.

Lee J et al.

Frontiers in Genetics, 2020

33584783 (PubMed )
Supplement: Table_3.xlsx › Supplementary_Table_3
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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."