Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q290*
Back to variants list

SATB2

NM_001172509.2:p.Q290*

Associated Papers

CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

Al-Kateb H et al.

Clinical Genetics, 2024

38044714 (PubMed )
Supplement: supplement_1.xlsx › Detailed_Table

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

Mutation update for the SATB2 gene.

Zarate YA et al.

Human Mutation, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."