Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.I288M
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FGFR2

NM_000141.5:p.I288M

Associated Papers

The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.

Ma M et al.

Bmc Medical Genomics, 2026

41572294 (PubMed )
Supplement: 12920_2026_2312_MOESM4_ESM.docx

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Cornejo-Roldan LR et al.

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."