Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.P264delFs
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NHS

NM_001291867.2:p.P264delFs

Associated Papers

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

Zhang KL et al.

Pediatric Research, 2025

40817290 (PubMed )
Supplement: 41390_2025_4335_MOESM2_ESM.xlsx › Sheet1

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

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

Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.

Gómez-Laguna L et al.

Ophthalmic Genetics, 0

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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."