Varaico: Literature-Extracted Genetic Variants

Gene:SH3BP2
Variant:p.D419G
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SH3BP2

NM_001122681.2:p.D419G

Associated Papers

Cherubism in three siblings.

Jákob N et al.

Orvosi Hetilap, 2022

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

Sangu N et al.

Congenital Anomalies, 2013

Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease.

Pérez-Sayáns M et al.

Head & Face Medicine, 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

A novel mutation in the SH3BP2 gene causes cherubism: case report.

Li CY et al.

Bmc Medical Genetics, 2006

[Mutation detection in SH3BP2 gene in a cherubism family].

Li CY et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 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."