Supplementary files to: A girl with Bloom syndrome and a unique combination of phenotype-modifying genetic hits: a lesson from trio-based whole-exome sequencing

Name: Supplementary files to: A girl with Bloom syndrome and a unique combination of phenotype-modifying genetic hits: a lesson from trio-based whole-exome sequencing
Creator: Wayhelova, Marketa
Published: 2022-07-26T00:00:00+08:00

Figshare2022-12-07 更新2026-04-08 收录

罕见病分子遗传学

基因变异功能验证

数据链接：

https://figshare.com/articles/dataset/Supplementary_files_to_A_girl_with_Bloom_syndrome_and_a_unique_combination_of_phenotype-modifying_genetic_hits_a_lesson_from_trio-based_whole-exome_sequencing/19727653/2 数据链接链接失效反馈

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资源简介：

Sanger sequencing chromatograms for the verification of WES data and variant scoring (BLM gene, c.1642C>T, c.2207_2212delinsTAGATTC) MS-MLPA results for RSS/BWS with a borderline hypermethylation H19 locus Coffalyser output for MS-MLPA RSS/BWS in proband real-time qPCR primers and results for the verification of 15q11.2 duplication description of MS-MLPA and qPCR analyses

提供机构：

Wayhelova, Marketa

创建时间：

2022-07-26