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2021-04-15
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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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MLH1 variants-defective DNA mismatch repair
MLH1 heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). This system assembles in a stepwise fashion, with the MutL complex recruited af
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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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