Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.A543V
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CPS1

NM_001875.5:p.A543V

Associated Papers

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Fecarotta S et al.

Orphanet Journal of Rare Diseases, 2025

39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf
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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."