Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.E627K
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FGFR3

NM_000142.5:p.E627K

Associated Papers

Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.

Moura S et al.

Genome Biology and Evolution, 2024

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.

Salazar R et al.

Genome Research, 2022

35210354 (PubMed )
Supplement: supp_gr.275695.121_Supplemental_Table_S13.xlsx › Table_S13

The role of fibroblast growth factor receptor (FGFR) protein-tyrosine kinase inhibitors in the treatment of cancers including those of the urinary bladder.

Roskoski R

Pharmacological Research, 2020

Evaluation of FGFR3 as a Therapeutic Target in Head and Neck Squamous Cell Carcinoma.

von Mässenhausen A et al.

Targeted Oncology, 2016

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Chassaing N et al.

Genome Research, 2016

26893459 (PubMed )
Supplement: supp_gr.196048.115_Supp_Tables_2-7.docx
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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."