Varaico: Literature-Extracted Genetic Variants

Gene:SATB2
Variant:p.Q250*
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SATB2

NM_001172509.2:p.Q250*

Associated Papers

Exome Sequencing Studies in Syndromic Patients With Cleft Lip and/or Palate: Systematic Review.

Cárdenas-Nieto D et al.

The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025

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

Liu Q et al.

Experimental and Therapeutic Medicine, 2023

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

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

Schwartz E et al.

American Journal of Medical Genetics. Part A, 2017

SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.

Zarate YA et al.

American Journal of Medical Genetics. Part A, 2017

Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

Zarate YA et al.

American Journal of Medical Genetics. Part A, 2015

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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."