Article

Novel insertion mutation (R1822_E1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect

2020-11-06

Abstract excerpt

Atrial septal defect, secundum (ASD Ⅱ, OMIM: 603642) is the second common congenital heart defect (CHD) in China. However, the genetic etiology of familial ASD II remains elusive. Using whole-exome sequencing (WES) and Sanger sequencing, we identified a novel myosin heavy chain 6 (MYH6) gene insertion variation, NM_002471.3:c.5465_5470dup (R1822_E1823dup), in a large Chinese Han family with ASD II. The variant R18...

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Literature Corpus work: 5ce598a4-9e7a-5c72-94f9-2765267fb668
DOI: 10.22541/au.160466115.51769037/v1

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