Varaico: Literature-Extracted Genetic Variants

Gene:GTPBP4
Variant:p.R248C
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GTPBP4

NM_012341.3:p.R248C

Associated Papers

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer.

Roperch JP et al.

Bmc Cancer, 2016

FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation.

Gibbs L et al.

Biochimica Et Biophysica Acta, 2007

Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

Park WJ et al.

American Journal of Human Genetics, 1995

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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."