Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E108*
Back to variants list

NHS

NM_001291867.2:p.E108*

Associated Papers

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

Zhang KL et al.

Pediatric Research, 2025

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

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Li H et al.

Scientific Reports, 2018

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

Zhang DD et al.

Genetics and Molecular Research : Gmr, 2016

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.

Hong N et al.

Journal of Zhejiang University. Science. B, 2014

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."