Varaico: Literature-Extracted Genetic Variants

Gene:OTC
Variant:p.H117Y
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OTC

NM_000531.6:p.H117Y

Associated Papers

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

Cecchi C et al.

Human Molecular Genetics, 1997

The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

Cecchi C et al.

Human Molecular Genetics, 1997

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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."