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Article

Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect

1 Sept 2021

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 34481090
DOI: 10.1016/j.ejmg.2021.104314

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Related research

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Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defectPMID 34481090Read ↗

Novel insertion mutation (R1822_E1823dup) in MYH6 coiled-coil domain causing familial atrial septal defectSemantic proximity Read ↗

A rare missense mutation in <i>MYH6</i> confers high risk of coarctation of the aortaSemantic proximity Read ↗

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Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.Semantic proximity Read ↗

Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defectsSemantic proximity Read ↗

A rare variant in MYH6 is associated with high risk of sick sinus syndrome.Semantic proximity Read ↗

A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta.Semantic proximity Read ↗

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.Semantic proximity Read ↗

Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analysesSemantic proximity Read ↗

De novo DCHS1 splicing mutation in a patient with mitral valve prolapse.Semantic proximity Read ↗

Mutation in myosin heavy chain 6 causes atrial septal defectSemantic proximity Read ↗

Mutations in the tail domain of MYH3 contributes to atrial septal defect.Semantic proximity Read ↗

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