Publications:

Calmodulin Mutations in Human Disease.

Channels (Austin, Tex.)

Hussey, John W JW; Limpitikul, Worawan B WB; Dick, Ivy E IE

Publication Date: 2023-12

Variant appearance in text: RYR1: N53I

PubMed Link: 36629534

Variant Present in the following documents:

• KCHL_17_2165278.pdf

View BVdb publication page

Ca2+-dependent calmodulin binding to cardiac ryanodine receptor (RyR2) calmodulin-binding domains.

The Biochemical Journal

Brohus, Malene M; Søndergaard, Mads T MT; Wayne Chen, Sui Rong SR; van Petegem, Filip F; Overgaard, Michael T MT

Publication Date: 2019-01-18

Variant appearance in text: RYR1: N53I

PubMed Link: 30530841

Variant Present in the following documents:

• BCJ-476-193.pdf

View BVdb publication page

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.

American Journal Of Human Genetics

Nyegaard, Mette M; Overgaard, Michael T MT; Søndergaard, Mads T MT; Vranas, Marta M; Behr, Elijah R ER; Hildebrandt, Lasse L LL; Lund, Jacob J; Hedley, Paula L PL; Camm, A John AJ; Wettrell, Göran G; Fosdal, Inger I; Christiansen, Michael M; Børglum, Anders D AD

Publication Date: 2012-10-05

Variant appearance in text: RYR1: Asn53Ile

PubMed Link: 23040497

Variant Present in the following documents:

• Main text

View BVdb publication page