Varaico: Literature-Extracted Genetic Variants

Gene:MEIS2
Variant:p.P302L
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MEIS2

NM_170675.5:p.P302L

Associated Papers

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

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

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

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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."