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An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis

Crossref DOI link: https://doi.org/10.1186/s40246-026-00995-y

Published Online: 2026-06-10

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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