Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.T284delFs
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NHS

NM_001291867.2:p.T284delFs

Associated Papers

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 NHS mutation in a Chinese family with Nance-Horan syndrome.

Li A et al.

Current Eye Research, 2015

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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