Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.L630P
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FGFR1

NM_023110.3:p.L630P

Associated Papers

Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.

Wang Y et al.

Translational Andrology and Urology, 2023

Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.

Acierno JS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism.

Xu C et al.

Clinical Genetics, 2017

A pathway-centric survey of somatic mutations in Chinese patients with colorectal carcinomas.

Ling C et al.

Plos One, 2015

25617745 (PubMed )
Supplement: pone.0116753.s002.xlsx › table_s2

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Abel BS et al.

The Journal of Clinical Endocrinology and Metabolism, 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."