Varaico: Literature-Extracted Genetic Variants

Gene:DGUOK
Variant:p.R148Splc
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DGUOK

NM_080916.3:p.R148Splc

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.

Squires JE et al.

Hepatology Communications, 2023

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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."