Varaico: Literature-Extracted Genetic Variants

Gene:NONO
Variant:p.Q30_P38delFs
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NONO

NM_007363.5:p.Q30_P38delFs

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

Chromatin Meets Condensates: Emerging Interplays Linking Nuclear Paraspeckles to Gene Activation.

Tu CH et al.

Epigenetics Reports, 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

It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.

Westphal DS et al.

Journal of Cardiovascular Development and Disease, 2022

35200695 (PubMed )
Supplement: jcdd-09-00041-s001.zip › jcdd-1557190-supplementary.xlsx › GenetischeBefunde

De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.

Brunet T et al.

Clinical Genetics, 2021

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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."