Associated Papers
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Zheng Y et al.
Molecular Genetics & Genomic Medicine, 2023
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review.
Yuan M et al.
Translational Pediatrics, 2023
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Awamleh Z et al.
European Journal of Human Genetics : Ejhg, 2022
35361921 (PubMed )
Supplement: 41431_2022_1083_MOESM1_ESM.xlsx › Table_S1_Phenotypes
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V et al.
American Journal of Human Genetics, 2016
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