Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q391_G392Splc
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SATB2

NM_001172509.2:p.Q391_G392Splc

Associated Papers

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Wilson K et al.

Human Molecular Genetics, 2023

37010288 (PubMed )
Supplement: supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx › S4

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

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

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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."