Publications:

Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: KCNQ1: P74L

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: KCNQ1: P74L

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Human Mutation

Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L

Publication Date: 2021-08

Variant appearance in text: KCNQ1: P74L

PubMed Link: 34015158

Variant Present in the following documents:

• HUMU-42-978.pdf

View BVdb publication page

Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.

Human Mutation

Lopes-Marques, Mónica M; Pacheco, Ana Rita AR; Peixoto, Maria João MJ; Cardoso, Ana Rita AR; Serrano, Catarina C; Amorim, António A; Prata, Maria João MJ; Cooper, David N DN; Azevedo, Luísa L

Publication Date: 2021-08

Variant appearance in text: KCNQ1: P74L

PubMed Link: 34015158

Variant Present in the following documents:

• HUMU-42-978.pdf

View BVdb publication page