Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.R659S
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PRKCG

NM_002739.5:p.R659S

Associated Papers

Novel mutation in exon11 of PRKCG (SCA14): A case report.

Sun R et al.

Frontiers in Genetics, 2023

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

De Michele G et al.

Journal of Neurology, 2022

[Correlation of single nucleotide polymorphisms of the osteopontin gene with astheozoospermia].

Wei YX et al.

Zhonghua Nan Ke Xue = National Journal of Andrology, 2021

Genetic variations in the PRKCG gene and osteosarcoma risk in a Chinese population: a case-control study.

Lu H et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2015

Single-nucleotide polymorphisms of the PRKCG gene and osteosarcoma susceptibility.

Zhang Y et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.

Sailer A et al.

Neurology, 2012

R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa.

Mochizuki H et al.

Neurochemistry International, 2006

Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.

Chen DH et al.

American Journal of Human Genetics, 2003

Segregation of a PRKCG mutation in two RP11 families.

Al-Maghtheh M et al.

American Journal of Human Genetics, 1998

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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."