Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

We report three novel variants (KCNQ1 p.46, KCNH2 p.D803Y, SCN5A p.G1391R) which have never been reported for this AA location in LQTS; the phenotype-genotype correlation suggests their pathogenicity.
PMID: 30244407 [PubMed - as supplied by publisher]

Source: J Appl Genet - September 22, 2018 Category: Genetics & Stem Cells Authors: Szperl M, Kozicka U, Kosiec A, Kukla P, Roszczynko M, Biernacka EK Tags: J Appl Genet Source Type: research