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资源简介：
mutation screen in patients with amelogenesis imperfecta-3
应用场景：
创建时间：
2023-07-12
相关数据集
Homo sapiens Raw sequence reads. Homo sapiens
Identification of a new X-linked COL4A5 gene mutation in Alport syndrome accompanied by IgA Nephropathy from a Chinese family
NIAID Data Ecosystem60
Additional file 3 of Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients
Additional file 3: Table S1. Sanger Sequencing HepG2. Results of genotyping WT HepG2 cells and four MCAD-knockouts.
Figshare2023-11-19 更新50
Summary of reported RET double mutations associated with MEN 2.
Summary of reported RET double mutations associated with MEN 2.
Figshare2015-12-02 更新40
Table S1 - Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities
SNPs that are homozygous in both affected siblings and heterozygous or absent in the unaffected sibling. (DOC)
Figshare2015-12-02 更新50
Additional file 1: of A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
Annotation of variants compatible with recessive inheritance. Description: The functional consequences of 702 sequence variants compatible with recessive inheritance of epidermolysis bullosa were obta
NIAID Data Ecosystem40
