Associated Papers
ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.
Woods E et al.
Clinical Genetics, 2024
Four heterozygous de novo variants in ASXL3 identified with Bainbridge-Ropers syndrome and further dissecting published genotype-phenotype spectrum.
Ling S et al.
Frontiers in Neuroscience, 2024
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S et al.
American Journal of Medical Genetics. Part A, 2021
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