Varaico: Literature-Extracted Genetic Variants

Gene:ASPG
Variant:p.R40K
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ASPG

NM_001080464.3:p.R40K

Associated Papers

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Siri B et al.

Orphanet Journal of Rare Diseases, 2024

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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."