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资源简介：
Linked genotype and phenotype data of fine-mapping
应用场景：
创建时间：
2020-07-22
相关数据集
Table_4_Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.XLSX
PurposeRPGR is the most common cause of X-linked retinitis pigmentosa (RP), of which female carriers are also frequently affected. The aim of the current study was to explore the RPGR variation spectr
NIAID Data Ecosystem60
Table_1_Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.XLSX
Charcot-Marie-Tooth type 4 (CMT4) is an autosomal recessive severe form of neuropathy with genetic heterogeneity. CMT4B1 is caused by mutations in the myotubularin-related 2 (MTMR2) gene and as a memb
NIAID Data Ecosystem40
Understanding the genetic diversification within pneumococcal biofilms.. Streptococcus pneumoniae strain:serotype 22F
Biofilms are complex aggregations of bacteria, adhered to a surface and may play a vital role in colonization and persistence of human pathogens. The aim of this study was to increase our understandin
NIAID Data Ecosystem30
Brugada syndrome genetics is associated with phenotype severity.
Dataset from Ciconte G, Monasky MM, Santinelli V, Micaglio E, Vicedomini G, Anastasia L, Negro G, Borrelli V, Giannelli L, Santini F, de Innocentiis C, Rondine R, Locati ET, Bernardini A, Mazza BC, Me
NIAID Data Ecosystem50
Additional file 1 of Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital
Additional file 1. An Excel sheet (.xls) named “Detailed data of every patient” describes the detailed information on biallelic variants and corresponding clinical characteristics of every patient wit
Figshare2022-03-24 更新30
