Varaico: Literature-Extracted Genetic Variants

Gene:RPP30
Variant:p.A11V
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RPP30

NM_006413.5:p.A11V

Associated Papers

Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.

Ambrosio A et al.

International Journal of Neonatal Screening, 2025

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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."