Varaico: Literature-Extracted Genetic Variants

Gene:STAG1
Variant:p.R395*
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STAG1

NM_005862.3:p.R395*

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

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

Bregvadze K et al.

Sage Open Medical Case Reports, 2024

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