Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q391P
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SATB2

NM_001172509.2:p.Q391P

Associated Papers

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity.

den Hoed J et al.

Hgg Advances, 2026

41139958 (PubMed )
Supplement: mmc3.pdf

Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf

Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.

Slavotinek A et al.

Npj Genomic Medicine, 2023

37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
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