Varaico: Literature-Extracted Genetic Variants

Gene:NSUN5
Variant:p.K65del1
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NSUN5

NM_148956.4:p.K65del1

Associated Papers

Whole-exome sequencing screening for candidate genes and variants associated with primary sporadic keratoconus in Chinese patients.

Song C et al.

Experimental Eye Research, 2024

Mutations in RNA Methyltransferase Gene NSUN5 Confer High Risk of Outflow Tract Malformation.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2021

Exome sequencing identification of susceptibility genes in Chinese patients with keratoconus.

Xu L et al.

Ophthalmic Genetics, 2020

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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."