Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.M206fs
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OTC

NM_000531.6:p.M206fs

Associated Papers

Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.

Zhang C et al.

Neurology. Genetics, 2024

[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].

Sun WH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011

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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."