Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S378I
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FGFR3

NM_000142.5:p.S378I

Associated Papers

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.

Nagata T et al.

Molecular Genetics & Genomic Medicine, 2020

Exploration of resistance mechanisms for epidermal growth factor receptor-tyrosine kinase inhibitors based on plasma analysis by digital polymerase chain reaction and next-generation sequencing.

Iwama E et al.

Cancer Science, 2018

Mechanism of FGF receptor dimerization and activation.

Sarabipour S et al.

Nature Communications, 2016

The pathogenic A391E mutation in FGFR3 induces a structural change in the transmembrane domain dimer.

Mudumbi KC et al.

The Journal of Membrane Biology, 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."