Associated Papers
Mutation of TRPML1 Channel and Pathogenesis of Neurodegeneration in Haimeria.
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Molecular Neurobiology, 2024
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › MCOLN1
Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV-A Review and Case Series.
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International Journal of Molecular Sciences, 2020
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