Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.E1218insFs
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NHS

NM_001291867.2:p.E1218insFs

Associated Papers

Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.

Zhang H et al.

Bmc Medical Genomics, 2025

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

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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."