Comprehensive genetic study of malignant middle ear paraganglioma
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https://www.ncbi.nlm.nih.gov/sra/SRP395015
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资源简介：
Whole exome sequencing data for the report of a case of malignant MEPGL accompanied by the comprehensive genetic analysis of primary tumor and metastasis. Based on this data, germline pathogenic mutation p.R230H in the SDHB gene was found in a patient. Analysis of somatic mutation spectra revealed five novel variants in different genes, including a potentially deleterious variant in UNC13C that is common for tumor and metastasis. Identified somatic variants clustered in SBS1 and SBS5 mutational signatures.
创建时间：
2022-09-01
