Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.P82_P83delFs
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NONO

NM_007363.5:p.P82_P83delFs

Associated Papers

NONO-Related Syndromic X-Linked Developmental Disability 34: Further Clinical and Molecular Delineation in a Prenatal Cohort.

Zhao Y et al.

Prenatal Diagnosis, 2026

Identification of a novel de novo NONO variants causing X-linked syndromic intellectual developmental disorder-34 in a fetus.

Huang R et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2026

Case Report: A female case of X-linked intellectual disability syndrome type 34 caused by a NONO frameshift variant and literature review.

Zhang Y et al.

Frontiers in Pediatrics, 2026

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_6

Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.

Roessler F et al.

American Journal of Medical Genetics. Part A, 2023

Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel non-POU domain-containing octamer-binding gene variant.

Safi S et al.

Cardiology in the Young, 2022

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Pauta M et al.

Journal of Clinical Medicine, 2021

Characteristics of Cardiac Phenotype in Prenatal Familial Cases With NONO Mutations.

Sun H et al.

Circulation. Genomic and Precision Medicine, 2020

Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34.

Sun H et al.

Frontiers in Genetics, 2020

Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population.

Sun H et al.

Frontiers in Cardiovascular Medicine, 2020

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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."