Associated Papers
A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.
Zhao W et al.
Frontiers in Pediatrics, 2021
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Brunelli L et al.
Molecular Genetics & Genomic Medicine, 2019
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.
Urreizti R et al.
Clinical Case Reports, 2018
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