Publications:

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Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

International Journal Of Legal Medicine

Martinez-Barrios, Estefanía E; Sarquella-Brugada, Georgia G; Perez-Serra, Alexandra A; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Alcalde, Mireia M; Coll, Mónica M; Puigmulé, Marta M; Iglesias, Anna A; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; Lopez, Laura L; Fiol, Victoria V; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Díez-Escuté, Nuria N; Cerralbo, Patricia P; Grassi, Simone S; Oliva, Antonio A; Toro, Rocío R; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2023-01-25

Variant appearance in text: ANK2: 7148C>T; Pro2383Leu; rs35960628

PubMed Link: 36693943

Variant Present in the following documents:

• 414_2023_2951_MOESM1_ESM.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: ANK2: 7148C>T; Pro2383Leu

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Association analysis and functional annotation of imputed sequence data within genomic regions influencing resistance to gastro-intestinal parasites detected by an LDLA approach in a nucleus flock of Sarda dairy sheep.

Genetics, Selection, Evolution : Gse

Casu, Sara S; Usai, Mario Graziano MG; Sechi, Tiziana T; Salaris, Sotero L SL; Miari, Sabrina S; Mulas, Giuliana G; Tamponi, Claudia C; Varcasia, Antonio A; Scala, Antonio A; Carta, Antonello A

Publication Date: 2022-01-03

Variant appearance in text: ANK2: 7148C>T; Pro2383Leu

PubMed Link: 34979909

Variant Present in the following documents:

• 12711_2021_690_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: ANK2: 7148C>T; P2383L; rs35960628

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ANK2: P2383L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ANK2: P2383L; rs35960628

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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