Varaico: Literature-Extracted Genetic Variants

Gene:MEIS2
Variant:p.H213_N214Splc
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MEIS2

NM_170675.5:p.H213_N214Splc

Associated Papers

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

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

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

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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."