Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.P465insFs
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NONO

NM_007363.5:p.P465insFs

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

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

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Abul-Husn NS et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36993157 (PubMed )
Supplement: media-2.xlsx › eTable_5

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

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

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

Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.

Scott DA et al.

Journal of Medical Genetics, 2017

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

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.

Mircsof D et al.

Nature Neuroscience, 2015

[Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].

Langouët M et al.

Medecine Sciences : M/s, 0

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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."