Varaico: Literature-Extracted Genetic Variants

Gene:ITPR2
Variant:p.G2498S
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ITPR2

NM_002223.4:p.G2498S

Associated Papers

Primary hyperhidrosis: From a genetics point of view.

Parveen A et al.

Journal of Family Medicine and Primary Care, 2023

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

Järvelä I et al.

Human Genetics, 2021

Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.

Terry LE et al.

The Journal of Biological Chemistry, 2020

Inositol 1,4,5-Trisphosphate Receptors in Human Disease: A Comprehensive Update.

Gambardella J et al.

Journal of Clinical Medicine, 2020

Type 3 inositol 1,4,5-trisphosphate receptor: A calcium channel for all seasons.

Mangla A et al.

Cell Calcium, 2020

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

Klar J et al.

The Journal of Clinical Investigation, 2014

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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."