Varaico: Literature-Extracted Genetic Variants

Gene:CASQ2
Variant:p.Y28C
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CASQ2

NM_001232.4:p.Y28C

Associated Papers

RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers.

Tian S et al.

The Biochemical Journal, 2023

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup
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