Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R666W
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RBM20

NM_001134363.3:p.R666W

Associated Papers

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
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