Associated Papers
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R et al.
Bmc Medical Genomics, 2023
37344844 (PubMed )
Supplement: 12920_2023_1582_MOESM2_ESM.xls › Feuil1
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.
Obeyesekere MN et al.
Journal of Cardiovascular Electrophysiology, 2012
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