Varaico: Literature-Extracted Genetic Variants

Gene:STAG1
Variant:p.L923_I924delFs
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STAG1

NM_005862.3:p.L923_I924delFs

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

A novel STAG1 variant associated with congenital clubfoot and microphthalmia: A case report.

Bregvadze K et al.

Sage Open Medical Case Reports, 2024

Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

Di Muro E et al.

Genes, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."