Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.Q115L
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FGFR3

NM_000142.5:p.Q115L

Associated Papers

Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.

Yao G et al.

Medicine, 2019

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.

Song SH et al.

American Journal of Medical Genetics. Part A, 2012

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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."