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- 2016
Ocular Manifestation of CACNA1A Pathogenic VariantsDOI: 10.15844/pedneurbriefs-30-12-2 Keywords: CACNA1A, Ocular Manifestation, Global Developmental Delay Abstract: Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in the CACNA1A gene
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