VPA genodermatoses
收藏Mendeley Data2026-04-18 收录
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https://data.mendeley.com/datasets/pw679mdcsp
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The Materials and Methods (Study population, Genetic testing, Bioinformatics analysis, and Variant validation/classification) have bene detailed in the supplementary material.
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: Molecular characteristics and ACMG criteria of the identified variants
S4: Clinical characteristics of the patient cohort
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：
2024-09-24
