Varaico: Literature-Extracted Genetic Variants

Gene:CSF1
Variant:p.A249G
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CSF1

NM_000757.6:p.A249G

Associated Papers

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

Bonaventure J et al.

American Journal of Medical Genetics, 1996

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].

Rousseau F et al.

Annales D'endocrinologie, 1996

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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."