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Frontiers | A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring–Opitz syndromes - Urreizti - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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