Publications:

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: Gly527Arg; rs763550164

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Annals Of Translational Medicine

Lu, Qiang Q; Shang, Liang L; Tian, Wo Tu WT; Cao, Li L; Zhang, Xue X; Liu, Qing Q

Publication Date: 2020-01

Variant appearance in text: SCN5A: 1579G>A; G527R

PubMed Link: 32055599

Variant Present in the following documents:

• Main text

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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer.

Genomics & Informatics

Yoon, Kyong-Ah KA; Woo, Sang Myung SM; Kim, Yun-Hee YH; Kong, Sun-Young SY; Han, Sung-Sik SS; Park, Sang-Jae SJ; Lee, Woo Jin WJ

Publication Date: 2018-12

Variant appearance in text: SCN5A: 1579G>A; G527R

PubMed Link: 30602096

Variant Present in the following documents:

• Main text

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: SCN5A: G527R; rs763550164

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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Rare coding TTN variants are associated with electrocardiographic QT interval in the general population.

Scientific Reports

Kapoor, Ashish A; Bakshy, Kiranmayee K; Xu, Linda L; Nandakumar, Priyanka P; Lee, Dongwon D; Boerwinkle, Eric E; Grove, Megan L ML; Arking, Dan E DE; Chakravarti, Aravinda A

Publication Date: 2016-06-20

Variant appearance in text: SCN5A: G527R; rs763550164

PubMed Link: 27321809

Variant Present in the following documents:

• Main text
• srep28356.pdf
• srep28356-s1.pdf

View BVdb publication page