Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.E396Q
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SATB2

NM_001172509.2:p.E396Q

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

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2

Genetic analysis of a child with SATB2‑associated syndrome and literature study.

Liu Q et al.

Experimental and Therapeutic Medicine, 2023

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

Bone health and SATB2-associated syndrome.

Zarate YA et al.

Clinical Genetics, 2018

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

Zarate YA et al.

Clinical Genetics, 2017

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Schwartz E et al.

American Journal of Medical Genetics. Part A, 2017

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Zarate YA et al.

American Journal of Medical Genetics. Part A, 2017

SATB2-associated syndrome presenting with Rett-like phenotypes.

Lee JS et al.

Clinical Genetics, 2016

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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."