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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NHS

Variant:p.R162delFs

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NHS

NM_001291867.2:p.R162delFs

hg38:chrX:17376239 AC>A

Associated Papers

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.

Delas F et al.

Biomedicines, 2025

40868138 (PubMed )

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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."