In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.

Int J Mol Sci · 2021 · PMC8123603 · PMID 33925997

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a clear trendno p-value reported

These results suggests that only some heterozygous SMPD1 variants that impact on protein activity lead to an early AOO in the carrier individuals [ 11 ], while others do not seem to show a clear trend or even lead to a later AOO.

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