Publications:

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.

International Journal Of Molecular Sciences

Rinné, Susanne S; Oertli, Annemarie A; Nagel, Claudia C; Tomsits, Philipp P; Jenewein, Tina T; Kääb, Stefan S; Kauferstein, Silke S; Loewe, Axel A; Beckmann, Britt Maria BM; Decher, Niels N

Publication Date: 2023-01-10

Variant appearance in text: KCNQ1: K421E

PubMed Link: 36674868

Variant Present in the following documents:

• Main text
• ijms-24-01350.pdf

View BVdb publication page

Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 1261A>G

PubMed Link: 32383558

Variant Present in the following documents:

• Main text
• MGG3-8-e1300.pdf
• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page