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Additional file 1 of Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants

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DataCite Commons2025-03-12 更新2025-09-07 收录
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Supplementary Material 1: Table S1 Title of data: ACMG/AMP Classification Methods. Description of data: Specification of ACMG/AMP criteria applied to IDS variants classification and/or application of the recommendations of the Sequence Variant Interpretation Working Group (SVI WG). Table S2 Title of data: MPS II Female Patients. Description of data: List of MPS II female patients reported in literature. Table S3 Title of data: IDS Unique Point Variants. Description of data: List of IDS Unique Point Variants collected from literature (last search June 2023). Table S5 Title of data: References Complex Variants. Description of data: References of the articles reporting MPS II patients carrying complex rearrangements. Table S6 Title of data: References Large Deletions-Insertions Variants. Description of data: References of the articles reporting MPS II patients carrying large deletions/insertions.

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2024-12-02
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