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Overlapping Phenotype of Adult-Onset <i>ALPK3</i>-Cardiomyopathy in the Setting of Two Novel Variants.

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第一作者： Olga S,Chumakova

第一单位： Moscow Healthcare Department, City Clinical Hospital 17, 119620 Moscow, Russia.;E.I. Chazov National Medical Research Center for Cardiology, 121552 Moscow, Russia.

作者： Olga S,Chumakova ^[1] ; Natalia V,Milovanova ^[2] ; Igor O,Bychkov ^[2] ; Ekaterina Y,Zakharova ^[2] ; Elena A,Mershina ^[3] ; Valentin E,Sinitsin ^[3] ; Dmitry A,Zateyshchikov ^[4]

作者单位： Moscow Healthcare Department, City Clinical Hospital 17, 119620 Moscow, Russia.;E.I. Chazov National Medical Research Center for Cardiology, 121552 Moscow, Russia. ^[1] Research Centre for Medical Genetics, 115522 Moscow, Russia. ^[2] Medical Research and Educational Center, Lomonosov Moscow State University, 119991 Moscow, Russia. ^[3] E.I. Chazov National Medical Research Center for Cardiology, 121552 Moscow, Russia. ^[4]

关键词 ALPK3 Alpha kinase 3 Biallelic Dilated cardiomyopathy Genetic testing Hypertrophic cardiomyopathy Novel variant

DOI 10.14740/cr1449

PMID 36660067

发布时间 2024-09-10

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Cardiology research

2022年13卷6期

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2022年13卷6期

398-404页

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Overlapping Phenotype of Adult-Onset <i>ALPK3</i>-Cardiomyopathy in the Setting of Two Novel Variants.

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Overlapping Phenotype of Adult-Onset <i>ALPK3</i>-Cardiomyopathy in the Setting of Two Novel Variants.

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