Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.C125*
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NHS

NM_001291867.2:p.C125*

Associated Papers

Epilepsy in NHS actin remodeling regulator gene (NHS) and genotype-phenotype correlations.

Zhang KL et al.

Pediatric Research, 2025

Prenatal Ultrasound Diagnosis and Prognosis Analysis of Fetal Congenital Cataract.

Wang H et al.

International Journal of Women's Health, 2025

Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene.

Yu X et al.

Gene, 2024

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Casto C et al.

Brain Sciences, 2021

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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."