Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.M400V
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FGFR2

NM_000141.5:p.M400V

Associated Papers

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Barnett CP et al.

Human Mutation, 2016

Clinical expression in Pfeiffer syndrome type 2 and 3: surveillance in Japan.

Koga H et al.

American Journal of Medical Genetics. Part A, 2012

Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.

Itoh S et al.

Fetal Diagnosis and Therapy, 2006

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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."