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Article

A Pathogenic Variant inALPK3Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy

15 Nov 2020

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 33191771
DOI: 10.1161/circgen.120.003127

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Related research

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A Pathogenic Variant inALPK3Is Associated With an Autosomal Dominant Adult-onset Hypertrophic CardiomyopathyPMID 33191771Read ↗

Phenotypic spectrum of ALPK3‐related cardiomyopathySemantic proximity Read ↗

Clinical Validity of Autosomal Dominant<i>ALPK3</i>Loss-of-function Variants as a Cause of Hypertrophic CardiomyopathySemantic proximity Read ↗

Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Two New Cases of Hypertrophic Cardiomyopathy and Skeletal Muscle Features Associated with ALPK3 Homozygous and Compound Heterozygous Variants.Semantic proximity Read ↗

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.Semantic proximity Read ↗

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.Semantic proximity Read ↗

Overlapping Phenotype of Adult-Onset ALPK3 -Cardiomyopathy in the Setting of Two Novel VariantsSemantic proximity Read ↗

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).Semantic proximity Read ↗

Reconsidering Silent Variant Unveils<i>SGCA</i>’s Role in Atypical CardiomyopathySemantic proximity Read ↗

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.Semantic proximity Read ↗

The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East AsiaSemantic proximity Read ↗

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