P533: Minigene splicing assay confirms the pathogenicity of the non-canonical splice site variant c.11+5G>A in RPE65

• Madhulatha Pantrangi,
• Bin Guan,
• Kristy Lee,
• Nia Moore,
• William Hankey,
• Robert Hufnagel

Affiliations

Madhulatha Pantrangi

Columbia University Irving Medical Center and NYP

Bin Guan

NEI/NIH

Kristy Lee

The University of North Carolina at Chapel Hill

Nia Moore

NEI/NIH

William Hankey

The University of North Carolina at Chapel Hill

Robert Hufnagel

National Eye Institute