Supplementary files to: A unique case of Bloom syndrome with a combination of genetic hits: a lesson from trio-based exome sequencing

Name: Supplementary files to: A unique case of Bloom syndrome with a combination of genetic hits: a lesson from trio-based exome sequencing
Creator: Wayhelova, Marketa
Published: 2023-03-30T00:00:00+08:00

Figshare2023-03-30 更新2026-04-08 收录

分子诊断

罕见病遗传变异分析

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 数据链接链接失效反馈

官方服务：

资源简介：

Sanger sequencing chromatograms for the verification of ES 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 description of MS-MLPA outputs full visualization of presented <em>BLM</em> gene variants (IGV software v2.8.13)

提供机构：

Wayhelova, Marketa

创建时间：

2023-03-30