Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.K578N
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SMPD1

NM_000543.5:p.K578N

Associated Papers

[Acid sphingomyelinase deficiency: A review].

Michaud M et al.

La Revue De Medecine Interne, 2025

Insights into National Laboratory Newborn Screening and Future Prospects.

Mujamammi AH

Medicina (kaunas, Lithuania), 2022

Interstitial lung disease in lysosomal storage disorders.

Borie R et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2021

Crystal structure of mammalian acid sphingomyelinase.

Gorelik A et al.

Nature Communications, 2016

27435900 (PubMed )
Supplement: ncomms12196-s1.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."