官方服务：
资源简介：
Exome Sequencing identifies Compand Heterozygous Mutations in TTN Associated with Hypertrophic Cardiomyopathy
应用场景：
创建时间：
2018-11-30
相关数据集
Rare exonic mutations identified during the resequencing stage.
Notes: a: Based on NCBI build 37.1. b: Based on NCBI Reference Sequence NC_000020.10. c: Based on NCBI Reference Sequence NP_001099043. AA: amino acid. All mutations are heterozygous. Rare exonic muta
NIAID Data Ecosystem40
Whole-exome sequencing of Fanconi anemia-like inherited bone marrow failure syndrome
We identified three fibroblast cultures derived from aplastic anemia patients in the Japanese Cancer Research Resources Bank (JCRB) Cell Bank that showed high levels of sister chromatid exchanges (SCE
NIAID Data Ecosystem40
Additional file 1: of Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance
Table S1. ROH (n=56) (either overlapping or unique) detected within the exomes of all cases and controls. No ROH detected in the populations controls 7, 8 and 9. Table S2. Variants (n=78) within ROHpr
Figshare2019-10-23 更新20
Frequencies of variant alleles detected in the individual exons of each gene.
Frequencies of variant alleles detected in the individual exons of each gene.
NIAID Data Ecosystem40
Additional file 4 of Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance
Additional file 4. Supplementary file 1: 1.exonic_variant_function, Supplementary File 2: 6.exonic_variant_function, Supplementary File 3: 19.exonic_variant_function, Supplementary File 4: 21.exonic_v
Figshare2021-03-21 更新30
