Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.N1669S
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RYR2

NM_001035.3:p.N1669S

Associated Papers

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.

Komachali SR et al.

Genomics & Informatics, 2022

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C et al.

Peerj, 2021

33552729 (PubMed )
Supplement: peerj-09-10711-s004.xlsx › list_of_307_variants_
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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."