Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.P533R
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SMPD1

NM_000543.5:p.P533R

Associated Papers

Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.

Burlina AB et al.

International Journal of Neonatal Screening, 2019

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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."