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Clinical Characterization and Mutation Analysis of 11 Iranian Ataxia-Telangiectasia Patients: A Report of Three Novel Mutations

Mendeley Data2024-03-27 更新2024-06-26 收录

动物遗传疾病

基因突变分析

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资源简介：

Genetic sequence analysis of ataxia-telangiectasia children and their parents.

应用场景：

创建时间：

2024-01-23

HLA分型

基因突变分析

Distribution of mutations detected by the U-TOP™ HL Genotyping Kit, according to the variants and genotypes.

NIAID Data Ecosystem70

Additional file 4 of S6K1 amplification confers innate resistance to CDK4/6 inhibitors through activating c-Myc pathway in patients with estrogen receptor-positive breast cancer

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

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

Additional file 2 of Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature review

动物遗传疾病

分子诊断

Additional file 2: Table S2. Clinical and molecular features of patients with overlapping 22q13 deletions not involving the SHANK3 gene (the probands, DECIPHER patient and previously reported patients

DataCite Commons2024-02-29 更新50

Additional file 3 of Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

基因剪接

动物遗传疾病

Additional file 3: Table S4. SpliceAI predictions for the effect on splicing of canonical splice site variants.

DataCite Commons2023-11-19 更新40

Clinical Characterization and Mutation Analysis of 11 Iranian Ataxia-Telangiectasia Patients: A Report of Three Novel Mutations

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