Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.L267L
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FGFR3

NM_000142.5:p.L267L

Associated Papers

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

Heuertz S et al.

European Journal of Human Genetics : Ejhg, 2006

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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."