Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.S269C
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FGFR3

NM_000142.5:p.S269C

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

A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.

Takahashi I et al.

Human Genome Variation, 2018

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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."