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资源简介：
WGS to identify genetic variants in Basan Syndrom
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创建时间：
2021-01-29
相关数据集
gVCF_HG01277
1000 Genomes gVCF mapped to hs37d5 for HG01277. Complete collection: https://doi.org/10.6084/m9.figshare.c.4414307
Figshare2019-04-09 更新50
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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deCODE Genetics Whole-Genome Sequencing Variants
Autosomal sequence variants identified in deCODE's whole-genome sequencing of 2,636 Icelanders
NIAID Data Ecosystem40
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
NIAID Data Ecosystem50
Additional file 1: Table S1. of Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
DSD gene variants. Each variant found in a diagnostic gene (after the filtering and curation process) is shown. In some cases where the gene is inherited in an autosomal recessive manner, two variants
Figshare2016-12-14 更新40
