Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.K650*
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FGFR3

NM_000142.5:p.K650*

Associated Papers

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Goriely A et al.

Nature Genetics, 2009

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

Tavormina PL et al.

American Journal of Human Genetics, 1999

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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."