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Additional file 2 of Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

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DataCite Commons2024-08-15 更新2024-09-03 收录
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Additional file 2. Table S1 : Pathogenic variants in EPM2A [NM_005670.4] reported in the collected cases. Legend: (§) the standard HGVS nomenclature guidelines ( https://varnomen.hgvs.org ) were used to standardize the nomenclature of each variant, when possible. Table S2: Pathogenic variants in NHLRC1 [NM_198586.3] reported in the collected cases. Legend: (§) the standard HGVS nomenclature guidelines ( https://varnomen.hgvs.org ) were used to standardize the nomenclature of each variant, when possible.
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2024-08-13
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