VPA genodermatoses_JAAD
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://data.mendeley.com/datasets/fcnx69vg8t
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资源简介：
Supplementary tables:
S1: Overview of the genes included in the panel and their associated OMIM phenotype(s)
S2: Demographics, panel results, implications, and secondary/carriership findings
S3: Clinical characteristics of the patient cohort
S4: Molecular characteristics and ACMG criteria of the identified variants
S5: Overview of the alternative diagnoses made with the ‘skin panel’ and the respective management implications
S6: Negative cases solved with additional genetic testing.
创建时间：
2024-11-28
