Publications:

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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: Nav1.5: V263I

PubMed Link: 36516610

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 787G>A; Val263Ile

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Peerj

Guelly, Christian C; Abilova, Zhannur Z; Nuralinov, Omirbek O; Panzitt, Katrin K; Akhmetova, Ainur A; Rakhimova, Saule S; Kozhamkulov, Ulan U; Kairov, Ulykbek U; Molkenov, Askhat A; Seisenova, Ainur A; Trajanoski, Slave S; Abildinova Rashbayeva, Gulzhaina G; Kaussova, Galina G; Windpassinger, Christian C; Lee, Joseph H JH; Zhumadilov, Zhaxybay Z; Bekbossynova, Makhabbat M; Akilzhanova, Ainur A

Publication Date: 2021

Variant appearance in text: SCN5A: V263I

PubMed Link: 33552729

Variant Present in the following documents:

• peerj-09-10711-s004.xlsx, sheet 1

View BVdb publication page

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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: 787G>A; V263I

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: SCN5A: V263I

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia

Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2015-08

Variant appearance in text: SCN5A: V263I

PubMed Link: 25917266

Variant Present in the following documents:

• leu2015107x2.xls, sheet 1

View BVdb publication page

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