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Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

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Description scientific article published on 02 September 2019
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author: Joris R Vermeesch  T B Crowley  Molka Kammoun  Donna M McDonald-McGinn  Beata Nowakowska  Elaine Zackai  Marta Unolt  Maciej Geremek  Wolfram Demaerel  Gail E Graham 

Publication date September 2, 2019
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