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

Name: Additional file 2 of Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data
Creator: Minardi, Raffaella; Muccioli, Lorenzo; Zenesini, Corrado; Tinuper, Paolo; Bisulli, Francesca; Gentry, Matthew S.; Vignatelli, Luca; Licchetta, Laura; Mostacci, Barbara; Pondrelli, Federica; Vander Kooi, Craig W.
Published: 2024-08-13T00:00:00+08:00

Figshare2024-08-13 更新2026-04-08 收录

Lafora病遗传变异

变异致病性预测

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Prognostic_value_of_pathogenic_variants_in_Lafora_Disease_systematic_review_and_meta-analysis_of_patient-level_data/26614480 数据链接链接失效反馈

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资源简介：

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.

提供机构：

Minardi, Raffaella; Muccioli, Lorenzo; Zenesini, Corrado; Tinuper, Paolo; Bisulli, Francesca; Gentry, Matthew S.; Vignatelli, Luca; Licchetta, Laura; Mostacci, Barbara; Pondrelli, Federica; Vander Kooi, Craig W.

创建时间：

2024-08-13