Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.K221_G222Splc
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OTC

NM_000531.6:p.K221_G222Splc

Associated Papers

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

Musalkova D et al.

Virchows Archiv : an International Journal of Pathology, 2018

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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."