Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S518Splc
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FGFR1

NM_023110.3:p.S518Splc

Associated Papers

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.

Stamou MI et al.

Journal of the Endocrine Society, 2024

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H et al.

American Journal of Human Genetics, 2013

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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."