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Filtering by: Research Type Patient Oriented Study Program Human Genetics and Genomics Study Program (HGSP)

Description/Abstract:	Background: Single ventricle disease (SVD) is a subtype of congenital heart disease that frequently requires early staged surgical intervention for survival. It is well known that syndromic causes of SVD are associated with worse outcomes....
Date:	August 1-2, 2024

Description/Abstract:	Background: Alternating hemiplegia of childhood (AHC) is a rare condition most frequently caused by mutations in ATP1A3, encoding for the alpha-3 subunit of Na+/K+-ATPase, and D801N is the most common variant. Individuals with ATP1A3-D801N have...
Date:	August 1-2, 2024

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