Associated Papers
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
Mucolipidosis type IV: an update.
Wakabayashi K et al.
Molecular Genetics and Metabolism, 2011
A potentially dynamic lysosomal role for the endogenous TRPML proteins.
Zeevi DA et al.
The Journal of Pathology, 2009
Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storage.
Kogot-Levin A et al.
Pediatric Research, 2009
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