Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome
Year: 2016
Type: article
Study design: Case Report
Source: Congenital Heart Disease
DOI: 10.1111/chd.12400
Institutions: Mayo Clinic, Children's Minnesota
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Funder: Mayo Clinic
OpenAlex ID: W2481168771
