Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.Q258*
Back to variants list

FGFR1

NM_023110.3:p.Q258*

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

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33442024 (PubMed )
Supplement: NIHMS1658429-supplement-Supplementary_Table_1.xlsx › Supp_Table_1C_SOX10-gnomAD

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

van Eyk CL et al.

Translational Psychiatry, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."