Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q419*
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SATB2

NM_001172509.2:p.Q419*

Associated Papers

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

Collu R et al.

Metabolic Brain Disease, 2024

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

Liu Q et al.

Experimental and Therapeutic Medicine, 2023

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X et al.

Journal of Medical Genetics, 2020

32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf

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."