Varaico: Literature-Extracted Genetic Variants

Gene:MEIS2
Variant:p.S204*
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MEIS2

NM_170675.5:p.S204*

Associated Papers

Functional analysis of MEIS2 splice site variant c.438 + 1G>T in a congenital heart patient.

Xu C et al.

Frontiers in Genetics, 2025

Cleft palate, congenital heart disease, and developmental delay involving MEIS2 heterozygous mutations found in the patient with attention deficit hyperactivity disorder: a case report.

Shen F et al.

Frontiers in Pediatrics, 2024

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Gangfuß A et al.

American Journal of Medical Genetics. Part A, 2021

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.

Verheije R et al.

European Journal of Human Genetics : Ejhg, 2019

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

Douglas G et al.

American Journal of Medical Genetics. Part A, 2018

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Fujita A et al.

Journal of Human Genetics, 2016

A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

Takai R et al.

Journal of Human Genetics, 2016

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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."