StoneRounds Case SR1344 was diagnosed with AD Retinitis Pigmentosa likely caused by mutations in the gene: RP1.

DataCite Commons2024-10-04 更新190

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

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

StoneRounds Case: SR1206

资源简介：

StoneRounds Case: SR1206

资源简介：

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