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Data for: De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

NIAID Data Ecosystem2026-03-11 收录

遗传性脑血管病

基因突变分析

数据链接：

https://data.mendeley.com/datasets/yj6cykyz4m 数据链接链接失效反馈

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资源简介：

summary of variations in COL4A1

应用场景：

创建时间：

2019-12-20

肿瘤分子靶向治疗

基因突变分析

Additional file 4: Supplementary Table S4. Detected molecular alterations and their mutant allele frequencies at baseline in the discovery cohort.

Figshare2024-02-16 更新50

National Cancer Institute Cancer Genome Characterization Initiative (CGCI)

基因组测序

基因突变分析

The Office of Cancer Genomics at the National Cancer Institute sponsored a series of studies as part of the Cancer Genome Characterization Initiative (CGCI) to assess novel emerging sequencing technol

NIAID Data Ecosystem40

Primers used in this study.

引物设计

基因突变分析

Note: Mutated nucleotides are underlined once. All primers listed here were synthesized by SBS Genetech (Beijing, China).

NIAID Data Ecosystem30

Clinical exome sequencing for Autosomal recessive bestrophinopathy

遗传性眼病

基因突变分析

Clinical exome sequencing results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy

NIAID Data Ecosystem40

Total number of non-silent mutations in the top predicted genes by different methods trained on the TUSON database.

癌症驱动基因

基因突变分析

Total number of non-silent mutations in the top predicted genes by different methods trained on the TUSON database.

NIAID Data Ecosystem40