Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Q180_E181Splc
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OTC

NM_000531.6:p.Q180_E181Splc

Associated Papers

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

Clinical, biochemical, and molecular findings in adults with hyperammonemia: A French bi-centric retrospective study.

Maquet J et al.

Molecular Genetics and Metabolism, 0

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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."