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Rebecca Mawby

University of Southampton

2

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A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

2021 American Journal of Medical Genetics Part A
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Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

2020 American Journal of Human Genetics
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