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: 2023-03-30 00:00:00
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Figshare2023-03-30 更新2026-04-08 收录

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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

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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