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: 2022-12-07 00:00:00
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Figshare2022-12-07 更新2026-04-08 收录

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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

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Wayhelova, Marketa

创建时间：

2022-07-26