Varaico: Literature-Extracted Genetic Variants

Gene:STAG1
Variant:p.P167insFs
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STAG1

NM_005862.3:p.P167insFs

Associated Papers

Analysis of STAG1 gene variants identified in a patient with intellectual disability and speech delay.

Jiang CC et al.

Yi Chuan = Hereditas, 2026

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

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