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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPS1

Variant:p.V278_K280delFs

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CPS1

NM_001875.5:p.V278_K280delFs

hg38:chr2:210590227 TCAGAAAG>T

Associated Papers

Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.

Kido J et al.

American Journal of Medical Genetics. Part A, 2021

33851512 (PubMed )

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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."