Publications:

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs199473172

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Genes

Villarreal-Molina, Teresa T; García-Ordóñez, Gabriela Paola GP; Reyes-Quintero, Álvaro E ÁE; Domínguez-Pérez, Mayra M; Jacobo-Albavera, Leonor L; Nava, Santiago S; Carnevale, Alessandra A; Medeiros-Domingo, Argelia A; Iturralde, Pedro P

Publication Date: 2021-12-22

Variant appearance in text: rs199473172

PubMed Link: 35052356

Variant Present in the following documents:

• Main text
• genes-13-00016.pdf

View BVdb publication page

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 2678G>T; R893L

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page