Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.G116R
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SATB2

NM_001172509.2:p.G116R

Associated Papers

Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders.

Li K et al.

Ebiomedicine, 2024

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

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA et al.

American Journal of Medical Genetics. Part A, 2018

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."