Publications:

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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: MYBPC3: 2873C>T; Thr958Ile

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Mixed Hypertrophic and Dilated Phenotype of Cardiomyopathy in a Patient With Homozygous In-Frame Deletion in the MyBPC3 Gene Treated as Myocarditis for a Long Time.

Frontiers In Pharmacology

Blagova, Olga O; Alieva, Indira I; Kogan, Eugenia E; Zaytsev, Alexander A; Sedov, Vsevolod V; Chernyavskiy, S S; Surikova, Yulia Y; Kotov, Ilya I; Zaklyazminskaya, Elena V EV

Publication Date: 2020

Variant appearance in text: MYBPC3: Thr958Ile

PubMed Link: 33101033

Variant Present in the following documents:

• fphar-11-579450.pdf

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYBPC3: T958I

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYBPC3: 2873C>T; Thr958Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Using high-resolution variant frequencies to empower clinical genome interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Whiffin, Nicola N; Minikel, Eric E; Walsh, Roddy R; O'Donnell-Luria, Anne H AH; Karczewski, Konrad K; Ing, Alexander Y AY; Barton, Paul J R PJR; Funke, Birgit B; Cook, Stuart A SA; MacArthur, Daniel D; Ware, James S JS

Publication Date: 2017-10

Variant appearance in text: MYBPC3: 2873C>T

PubMed Link: 28518168

Variant Present in the following documents:

• gim201726x1.pdf

View BVdb publication page

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Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

Bmc Medical Genetics

Ehlermann, Philipp P; Weichenhan, Dieter D; Zehelein, Jörg J; Steen, Henning H; Pribe, Regina R; Zeller, Raphael R; Lehrke, Stephanie S; Zugck, Christian C; Ivandic, Boris T BT; Katus, Hugo A HA

Publication Date: 2008-10-28

Variant appearance in text: MYBPC3: 2873C>T; T958I

PubMed Link: 18957093

Variant Present in the following documents:

• Main text
• 1471-2350-9-95.pdf

View BVdb publication page

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