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资源简介：
raw data of SOD1 patient with additional likely pathogenic variants
应用场景：
创建时间：
2023-12-03
相关数据集
Additional file 3 of VariantscanR: an R-package as a clinical tool for variant filtering of known phenotype-associated variants in domestic animals
Additional file 3: Complete output of the variantscanR report for the 4 canine samples. Description of the data: Excel file containing the complete variantscanR output report, including 3 tables per s
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gVCF_HG01277
1000 Genomes gVCF mapped to hs37d5 for HG01277. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
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Characteristics of CYP19A1 SNPs and predicted binding sites and associated regulatory proteins.
Characteristics of CYP19A1 SNPs and predicted binding sites and associated regulatory proteins.
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gVCF_NA20867
1000 Genomes gVCF mapped to hs37d5 for NA20867. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
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Table2_Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients.XLSX
Background: Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors arising from chromaffin cells in the adrenal medulla and extra-adrenal ganglia, respectively. The study was aimed t
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