Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.G391Splc
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NONO

NM_007363.5:p.G391Splc

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

Are NONO variants linked to congenital heart disease? Patient reports and review.

He P et al.

European Journal of Medical Genetics, 2025

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

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

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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."