Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.K221_G222Splc
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OTC

NM_000531.6:p.K221_G222Splc

Associated Papers

Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC.

Yang X et al.

Stem Cell Research, 2020

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."