Supplementary files to: A unique case of Bloom syndrome with a combination of genetic hits: a lesson from trio-based exome sequencing
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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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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 BLM gene variants (IGV software v2.8.13)
创建时间：
2022-07-06
