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Identification of a biallelic MMUT variant (p.Thr230Arg) and its global perspective on clinical management

Crossref DOI link: https://doi.org/10.1007/s11033-024-10194-4

Published Online: 2024-12-31

Published Print: 2025-12

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

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