A de novo and novel nonsense variants in ASXL2 gene is associated with Shashi–Pena syndrome
Author:
Funder
Natural Science Foundation of Henan Province
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference22 articles.
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4. Understanding the phenotypic spectrum of ASXL-related disease: ten cases and a review of the literature;Cuddapah;Am. J. Med. Genet.,2021
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2. Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome;Molecular Genetics & Genomic Medicine;2023-07-26
3. Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature;Clinical Dysmorphology;2023-05-12
4. H2A monoubiquitination: insights from human genetics and animal models;Human Genetics;2023-04-22
5. Epigenetic Regulator ASXL2: Structure, Function and its Predictive Value in Diseases;Current Protein & Peptide Science;2023-01
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