Associated Papers
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile.
Lee MM et al.
Annals of Clinical and Translational Neurology, 2022
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
Mahmoud IG et al.
Clinical Genetics, 2020
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