Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)
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M. Dattani | J. Saldanha | S. Townshend | A. Thankamony | I. Hughes | M. McCabe | P. Bouloux | Youli Hu | K. Alatzoglou | L. Gregory | C. Gaston-Massuet | Angelica Gualtieri | J. Martínez-Barbera