Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E186*
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NHS

NM_001291867.2:p.E186*

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

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

Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

Sun W et al.

Plos One, 2014

Mutation analysis of 12 genes in Chinese families with congenital cataracts.

Sun W et al.

Molecular Vision, 2011

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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."