Varaico: Literature-Extracted Genetic Variants

Gene:NSUN2
Variant:p.Q227*
Back to variants list

NSUN2

NM_017755.6:p.Q227*

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

Yang Q et al.

Bmc Medical Genomics, 2024

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms.

Muhammad N et al.

Frontiers in Neurology, 2023

Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.

Sun S et al.

Molecular Genetics & Genomic Medicine, 2020

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

Komara M et al.

Journal of Molecular Neuroscience : Mn, 2015

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Abbasi-Moheb L et al.

American Journal of Human Genetics, 2012

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."