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Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Circulation. Genomic and Precision Medicine

Sep 28, 2019

Judith M A VerhagenIngrid M B H van de Laar

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Abstract

Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in ...read more

Mentioned in this Paper

Alanine
Alleles
Cardiomyopathy, Dilated
Cessation of Life
Myocardium
Post-Translational Protein Processing
RNA, Messenger
Vertebrates
Zebrafish
Cardiac Function
1
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Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Circulation. Genomic and Precision Medicine

Sep 28, 2019

Judith M A VerhagenIngrid M B H van de Laar

PMID: 31461301

DOI: 10.1161/circgen.119.002507

Abstract

Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in ...read more

Mentioned in this Paper

Alanine
Alleles
Cardiomyopathy, Dilated
Cessation of Life
Myocardium
1

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