Additional file 1 of De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
收藏Figshare2021-10-27 更新2026-04-08 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_De_novo_variants_in_CACNA1E_found_in_patients_with_intellectual_disability_developmental_regression_and_social_cognition_deficit_but_no_seizures/16880242
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Additional file 1: Table S1. Sequencing methods for each patient of the cohort. Table S2. Detailed clinical description of CACNA1E patients. Table 3. Variants’ description, bioinformatics predictors and ACMG classification.
提供机构：
Rosenfeld, Jill A.; Cisarova, Katarina; Royer-Bertrand, Beryl; Lebon, Sebastien; Zackai, Elaine H.; Keena, Beth; Abbas, Safdar; Superti-Furga, Andrea; Van Winckel, Geraldine; Burrage, Lindsay C.; Kumps, Camille; Umair, Muhammad; Donald, Kirsten A.; O’Heir, Emily; Bassetti, Jennifer A.; Eastman, Emma; Chabane, Nadia; Emrick, Lisa T.; Moldovan, Oana; Bhoj, Elizabeth J.; Allen, Jake; Li, Dong; Jequier Gygax, Marine
创建时间：
2021-10-27
