Supplemental Bioinformatics Data
收藏DataCite Commons2022-01-19 更新2024-07-29 收录
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https://figshare.com/articles/dataset/Supplemental_Bioinformatics_Data/18699752/1
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资源简介:
This dataset describes the bioinformatics evaluation of calcium sensing receptor variants that have been shown by functional studies to be inactivating (Table 1) or to behave as wild type (Table 2). The data reveals considerable inconsistencies in the assignment of pathogenicity using various bioinformatics databases substantiating the need to perform in vitro functional analysis in order to confidently determine pathogenicity.
提供机构:
figshare
创建时间:
2022-01-19



