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Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Background: Known genetic causes of congenital heart disease (CHD) explain <40% of CHD
cases, and interpreting the clinical significance of variants with
uncertain functional impact remains challenging. We aim to improve
diagnostic classification of variants in patients with CHD by assessing the
impact of noncanonical splice region variants on RNA splicing.

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