Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E186_A187insFs
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NHS

NM_001291867.2:p.E186_A187insFs

Associated Papers

Identification of Novel Variants in the NHS in Four Turkish Patients With Nance-Horan Syndrome.

Alavanda C et al.

American Journal of Medical Genetics. Part A, 2025

39902773 (PubMed )
Supplement: supplement_1.docx

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

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

A Turkish family with Nance-Horan Syndrome due to a novel mutation.

Tug E et al.

Gene, 2013

Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.

Tug E et al.

Genetic Counseling (geneva, Switzerland), 2011

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."