Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants
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DOI: 10.3390/ijms21176355
Abstract: Lysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a… read more here.
Keywords: novel; lysosomal disorders; assessing lysosomal; era identification ... See more keywords