Associated Papers
A Novel Variant of STAG1 Gene and Literature Review.
Xie M et al.
Annals of Human Genetics, 2025
Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review.
Zhang Q et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
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
30158690 (PubMed )
Supplement: NIHMS973104-supplement-Table_S3.xlsx › sheet_2
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Lehalle D et al.
Journal of Medical Genetics, 2017
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