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

Data_Sheet_2.XLSX

遗传性纤毛疾病

基因突变分析

Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coi

NIAID Data Ecosystem30

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

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

<i>p53</i> mutations detected in colon adenocarcinomas.

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