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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLG1

Variant:p.S550A

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DLG1

NM_001366207.1:p.S550A

hg38:chr3:197090925 A>C

Associated Papers

The p.P888L SAP97 polymorphism increases the transient outward current (Ito,f) and abbreviates the action potential duration and the QT interval.

Tinaquero D et al.

Scientific Reports, 2020

32612162 (PubMed )

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