Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.R134fs
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NHS

NM_001291867.2:p.R134fs

Associated Papers

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

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

Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.

Ramprasad VL et al.

Investigative Ophthalmology & Visual Science, 2005

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."