Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.P225Q
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OTC

NM_000531.6:p.P225Q

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

SLC25A13 c.1610_1612delinsAT mutation in an Indian patient and literature review of 79 cases of citrin deficiency for genotype-phenotype associations.

Radha Rama Devi A et al.

Gene, 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."