Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP2
Variant:p.P418T
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SH3BP2

NM_001122681.2:p.P418T

Associated Papers

Clinical and genetic analysis of patients with cherubism.

Machado RA et al.

Oral Diseases, 2017

Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life.

Prescott T et al.

European Journal of Medical Genetics, 2013

Abstracts of the 22nd Congress of the International Association of Paediatric Dentistry. Munich, Germany. June 17-20, 2009.

Unknown Author

International Journal of Paediatric Dentistry, 2009

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism.

de Lange J et al.

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2007

Mutations of the SH3BP2 gene in 2 families of cherubism.

Tuna EB et al.

Pediatric Dentistry, 0

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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."