Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.G697R
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RBM20

NM_001134363.3:p.G697R

Associated Papers

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Dong W et al.

Iscience, 2020

33083721 (PubMed )
Supplement: mmc2.xlsx › ST1A

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.

Song JS et al.

Journal of Human Genetics, 2017

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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."