Varaico: Literature-Extracted Genetic Variants

Gene:NSUN2
Variant:p.D182_M183insFs
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NSUN2

NM_017755.6:p.D182_M183insFs

Associated Papers

Expanding the phenotype of biallelic loss-of-function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications.

Kato K et al.

American Journal of Medical Genetics. Part A, 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."