Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R248*
Back to variants list

NHS

NM_001291867.2:p.R248*

Associated Papers

Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.

Zhang KL et al.

Pediatric Research, 2025

Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.

Huang T et al.

Bmc Ophthalmology, 2025

Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene.

Yu X et al.

Gene, 2024

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

Ling C et al.

Bmc Medical Genetics, 2019

30642278 (PubMed )
Supplement: 12881_2018_725_MOESM4_ESM.xlsx › Sheet1

NHS Gene Mutations in Ashkenazi Jewish Families with Nance-Horan Syndrome.

Shoshany N et al.

Current Eye Research, 2017

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

Li D et al.

Molecular Vision, 2016

X-linked cataract and Nance-Horan syndrome are allelic disorders.

Coccia M et al.

Human Molecular Genetics, 2009

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Sharma S et al.

Molecular Vision, 2008

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."