Additional file 2 of Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus

Name: Additional file 2 of Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
Creator: Porter, Forbes D.; Hannah-Shmouni, Fady; Collins, Jack R.; Watson, Daniel; Alodadi, Mohammad S.; Ottinger, Elizabeth A.; Tawa, Gregory J.; Mudunuri, Uma S.; Haugabook, Sharie J.; Lyons, Erica L.
Published: 2024-08-13T00:00:00+08:00

Figshare2024-08-13 更新2026-04-08 收录

罕见病遗传变异解读

肌酸转运缺陷基因组学

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Rare_disease_variant_curation_from_literature_assessing_gaps_with_creatine_transport_deficiency_in_focus/26610756/1 数据链接链接失效反馈

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资源简介：

Additional file Table 2.: Supplemental Table of Genoox Classification of Curated Variants as Requested by the Reviewer. This supplemental table contains the Genoox classification and analysis

提供机构：

Porter, Forbes D.; Hannah-Shmouni, Fady; Collins, Jack R.; Watson, Daniel; Alodadi, Mohammad S.; Ottinger, Elizabeth A.; Tawa, Gregory J.; Mudunuri, Uma S.; Haugabook, Sharie J.; Lyons, Erica L.

创建时间：

2024-08-13