Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q333*
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SATB2

NM_001172509.2:p.Q333*

Associated Papers

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

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

Liu Q et al.

Experimental and Therapeutic Medicine, 2023

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.

Zarate YA et al.

Metabolic Brain Disease, 2021

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

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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."