Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.T290A
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SMPD1

NM_000543.5:p.T290A

Associated Papers

Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

Hall PL et al.

International Journal of Neonatal Screening, 2020

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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."