Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.G2556R
Back to variants list

ITPR1

NM_001378452.1:p.G2556R

Associated Papers

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Zucco J et al.

Journal of Human Genetics, 2024

Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy.

Kelu Bisabu K et al.

Circulation. Genomic and Precision Medicine, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."