Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.K210delFs
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OTC

NM_000531.6:p.K210delFs

Associated Papers

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.

Kido J et al.

Frontiers in Genetics, 2022

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Martín-Hernández E et al.

Orphanet Journal of Rare Diseases, 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."