Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.G380A
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FGFR3

NM_000142.5:p.G380A

Associated Papers

Associated anomalies in cases with achondroplasia.

Stoll C et al.

European Journal of Medical Genetics, 2022

FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.

Hatzaki A et al.

American Journal of Medical Genetics. Part A, 2011

Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia.

Tonoki H et al.

The Japanese 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."