Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.R829H
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RYR3

NM_001036.6:p.R829H

Associated Papers

Cryo-EM investigation of ryanodine receptor type 3.

Chen YS et al.

Nature Communications, 2024

39366997 (PubMed )
Supplement: 41467_2024_52998_MOESM1_ESM.pdf

Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.

Teles E Silva AL et al.

Translational Psychiatry, 2022

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Pehlivan D et al.

American Journal of Human Genetics, 2019

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits

Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individuals.

Zhi D et al.

Journal of Human Genetics, 2015

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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."