Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.N52Splc
Back to variants list

NONO

NM_007363.5:p.N52Splc

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

NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation.

Planté-Bordeneuve P et al.

European Journal of Medical Genetics, 2025

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."