Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP2
Variant:p.D419Y
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SH3BP2

NM_001122681.2:p.D419Y

Associated Papers

Multiple versus solitary giant cell lesions of the jaw: Similar or distinct entities?

Schreuder WH et al.

Bone, 2021

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism.

Deconte D et al.

Journal of Pediatric Genetics, 2021

Clinical and genetic analysis of patients with cherubism.

Machado RA et al.

Oral Diseases, 2017

Genetic study of an Indian family with cherubism.

Singh A et al.

Indian Journal of Pediatrics, 2014

Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.

Sangu N et al.

Congenital Anomalies, 2013

A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.

Dinckan N et al.

Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2012

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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."