Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.Q180_E181Splc
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OTC

NM_000531.6:p.Q180_E181Splc

Associated Papers

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings.

Silvera-Ruiz SM et al.

Orphanet Journal of Rare Diseases, 2019

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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."