Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.R540Q
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GCKR

NM_001486.4:p.R540Q

Associated Papers

Type 1 Hyperlipoproteinemia Due to Compound Heterozygous Rare Variants in GCKR.

Shetty S et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Rees MG et al.

Human Molecular Genetics, 2014

Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.

Rees MG et al.

The Journal of Clinical Investigation, 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."