Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.C341Y
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FGFR1

NM_023110.3:p.C341Y

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 Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.

Othman AA et al.

American Journal of Medical Genetics. Part A, 2025

Osteoglophonic Dysplasia: Phenotypic and Radiological Clues.

Kuthiroly S et al.

Journal of Pediatric Genetics, 2017

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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."