Mouse Model for CACNA1A gene mutations and related neurodevelopmental disorders

Awardee: Lisa Manaster

Foundation: CACNA1A Foundation

Funding Period: May 13, 2022

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iPSCs for Shwachman-Diamond Syndrome

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Mouse Model for Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) (NR2F1 gene mutation)