Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.P250A
Back to variants list

FGFR3

NM_000142.5:p.P250A

Associated Papers

[A case report of Muenke syndrome with soft cleft palate and literature review].

Sun J et al.

Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2025

FGFR3 gene mutations screening in non-muscle invasive bladder cancer (NMIBC) in the Tunisian population.

Saidani B et al.

Molecular Biology Reports, 2025

Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans.

Rymer K et al.

Molecular Genetics & Genomic Medicine, 2019

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

A patient with Muenke syndrome manifesting migrating neonatal seizures.

Okubo Y et al.

Brain & Development, 2017

Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.

Hughes J et al.

The Ulster Medical Journal, 2001

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."