官方服务：
资源简介：
Sequencing data in CMT
应用场景：
创建时间：
2021-05-30
相关数据集
StoneRounds Case: SR2309
StoneRounds Case SR2309 was diagnosed with Malattia Leventinese likely caused by mutations in the gene: EFEMP1.
DataCite Commons2022-11-15 更新70
Demographic data of carriers and patients with familial amyloid polyneuropathy.
Data are shown in Mean ± S.D. unless mentioned.*: median (range)The reference range is the standard range in National Taiwan University Hospital. MRC: Medical research council; UE: upper extremities;
Figshare2015-12-03 更新30
Clinical and pathological details of the investigated Hungarian AS/FBH families.
Clinical and pathological details of the investigated Hungarian AS/FBH families.
Figshare2016-03-08 更新20
Genetic analysis of one family with oligodontia and ectodermal dysplasia
Two members of this family is affected by ectodermal dysplasia. The goal is to identify the pathogenic mutations.
NIAID Data Ecosystem50
