Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Y284_Q285delFs
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OTC

NM_000531.6:p.Y284_Q285delFs

Associated Papers

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

Molecular genetics of citrullinemia types I and II.

Woo HI et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."