Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.R429Q
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SATB2

NM_001172509.2:p.R429Q

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

Individuals with SATB2-associated syndrome have impaired vitamin and energy metabolism pathways.

Collu R et al.

Metabolic Brain Disease, 2024

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.

Zarate YA et al.

Clinical Genetics, 2024

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

Liu Q et al.

Experimental and Therapeutic Medicine, 2023

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome.

Zarate YA et al.

Human Mutation, 2023

The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.

Li X et al.

Bmc Oral Health, 2022

Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.

Lewis H et al.

Pediatric Neurology, 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM11_ESM.xlsx › Supplementary_Data_9

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

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

Zarate YA et al.

Clinical Genetics, 2017

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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."