Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.S378fs
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SATB2

NM_001172509.2:p.S378fs

Associated Papers

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

Collu R et al.

Metabolic Brain Disease, 2024

Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.

Snijders Blok L et al.

Genes, Brain, and Behavior, 2021

34241948 (PubMed )
Supplement: GBB-20-0-s001.xlsx › Supplementary_table_paper

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

Genomic diagnosis for children with intellectual disability and/or developmental delay.

Bowling KM et al.

Genome Medicine, 2017

28554332 (PubMed )
Supplement: 13073_2017_433_MOESM2_ESM.xlsx › Sheet1
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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."