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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FGFR2

Variant:p.L357delFs

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FGFR2

NM_000141.5:p.L357delFs

hg38:chr10:121517331 TC>T

Associated Papers

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.

di Rocco F et al.

European Journal of Human Genetics : Ejhg, 2014

24736737 (PubMed )

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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."