Associated Papers
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.
Saad AK et al.
Jimd Reports, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
Riise Stensland HM et al.
Human Mutation, 2012
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