Publications:

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: Y350D

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: Y350D

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 1048T>G; Tyr350Asp

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993-s001.pdf
• JAH3-8-e012993.pdf

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Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Engelen, K K; Postma, A V AV; van de Meerakker, J B A JB; Roos-Hesselink, J W JW; Helderman-van den Enden, A T J M AT; Vliegen, H W HW; Rahman, T T; Baars, M J H MJ; Sels, J-W JW; Bauer, U U; Pickardt, T T; Sperling, S R SR; Moorman, A F M AF; Keavney, B B; Goodship, J J; Klaassen, S S; Mulder, B J M BJ

Publication Date: 2013-03

Variant appearance in text: MYH7: Tyr350Asp

PubMed Link: 21604106

Variant Present in the following documents:

• Main text
• 12471_2011_Article_141.pdf

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