Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R3B
Variant:p.S41R
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PPP1R3B

NM_024607.4:p.S41R

Associated Papers

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction.

Kahali B et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

Secolin R et al.

Frontiers in Genetics, 2021

33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2

Increased frequency of rare missense PPP1R3B variants among Danish patients with type 2 diabetes.

Niazi RK et al.

Plos One, 2019

Evaluation of Polygenic Determinants of Non-Alcoholic Fatty Liver Disease (NAFLD) By a Candidate Genes Resequencing Strategy.

Di Costanzo A et al.

Scientific Reports, 2018

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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."