Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E240Splc
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NHS

NM_001291867.2:p.E240Splc

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

Ophthalmic pathology of Nance-Horan syndrome: case report and review of the literature.

Ding X et al.

Ophthalmic Genetics, 2009

New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

Florijn RJ et al.

European Journal of Human Genetics : Ejhg, 2006

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

Burdon KP et al.

American Journal of Human Genetics, 2003

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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."