Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.S252delins
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FGFR2

NM_000141.5:p.S252delins

Associated Papers

A novel heterozygous mutation of three consecutive nucleotides causing Apert syndrome in a Congolese family.

Lumaka A et al.

European Journal of Medical Genetics, 2014

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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."