Associated Papers
A Novel Variant of STAG1 Gene and Literature Review.
Xie M et al.
Annals of Human Genetics, 2025
A novel frameshift STAG1 variant exhibiting haploinsufficiency due to the nonsense-mediated mRNA decay: a case report and literature review.
Jiang C et al.
Frontiers in Pediatrics, 2025
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.
Di Muro E et al.
Genes, 2021
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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