Publications:

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN5A: L1412F

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

View BVdb publication page

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.

Ebiomedicine

Chen, Gan-Xiao GX; Barajas-Martínez, Hector H; Ciconte, Giuseppe G; Wu, Cheng-I CI; Monasky, Michelle M MM; Xia, Hao H; Li, Bian B; Capra, John A JA; Guo, Kai K; Zhang, Zhong-He ZH; Chen, Xiu X; Yang, Bo B; Jiang, Hong H; Tse, Gary G; Mak, Chloe Miu CM; Aizawa, Yoshiyasu Y; Gollob, Michael H MH; Antzelevitch, Charles C; Wilde, Arthur A M AAM; Pappone, Carlo C; Hu, Dan D

Publication Date: 2022-12-12

Variant appearance in text: SCN5A: L1412F

PubMed Link: 36516610

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: L1412F

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One

Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2013

Variant appearance in text: SCN5A: L1412F

PubMed Link: 23308164

Variant Present in the following documents:

View BVdb publication page