Additional file 3 of Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

Silver-Russell综合征

Additional file 3: Table S2. File format: Excel spreadsheet. Summary of multigene screening studies for etiology-unknown patients with SRS phenotype using next-generation sequencing

DataCite Commons2020-08-25 更新40

ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

遗传性肾病

基因突变筛查

To investigate Armadillo repeat-containing 5 (ARMC5) mutations in Chinese patients with familial and sporadic primary bilateral macronodular adrenal hyperplasia (PBMAH), we performed clinical data col

NIAID Data Ecosystem30

Supplementary Material for: Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

基因突变筛查

Gitelman综合征遗传学

Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene ha

NIAID Data Ecosystem20

Additional file 1 of Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

资源简介：

Additional file 1 of Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

资源简介：

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