Research record: Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders.
Published in Genes (Basel); first publication date 2026-05-31. PMID 42353803.
This literature update records publication metadata from Europe PMC. Consult the original publication for its methods, findings and limitations.