Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.E402K
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SATB2

NM_001172509.2:p.E402K

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

Resolving unsolved whole-genome sequencing data in paediatric neurological disorders: a cohort study.

Chi CS et al.

Archives of Disease in Childhood, 2024

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

Maharjan DT et al.

Biomolecules, 2022

36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1

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

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Bengani H et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."