Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.G391Splc
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NONO

NM_007363.5:p.G391Splc

Associated Papers

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

Novel hemizygous loss-of-function variant in NONO identified in a South African boy.

Coetzer KC et al.

American Journal of Medical Genetics. Part A, 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

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.

Sewani M et al.

American Journal of Medical Genetics. Part A, 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

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.

Carlston CM et al.

American Journal of Medical Genetics. Part A, 2019

Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.

Reinstein E et al.

European Journal of Human Genetics : Ejhg, 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."