StoneRounds Case: SR591

Name: StoneRounds Case: SR591
Creator: StoneRounds.org
Published: 2020-05-05T20:34:52+08:00

DataCite Commons2024-01-14 更新2024-07-13 收录

遗传性疾病

基因突变

数据链接：

https://stonerounds.org/doi/10.34683/SR591 数据链接链接失效反馈

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资源简介：

StoneRounds Case SR591 was diagnosed with Achromatopsia likely caused by mutations in the gene: CNGB3.

提供机构：

StoneRounds.org

创建时间：

2020-05-05

Additional file 1: of Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

猫遗传性肌病

基因突变

Clinical, molecular, histopathological and ultrastructural findings for the patients. Table S1 Clinical and molecular findings in the DNM2 severe cases. Figure S1 Histopathological and ultrastructural

DataCite Commons2020-08-26 更新120

Mutation data of ovarian cancer

卵巢癌

基因突变

This study analyzed mutations in ovarian cancer using 18 tissue samples.

DataCite Commons2022-05-19 更新90

ENCSR487MNZ

RNA测序

基因突变

eyg-1 - total RNA-seq - Caenorhabditis elegans strain VC1800 (eyg-1(gk851) II) whole organism 50 minutes post synchronization using egg bleaching genetically modified (mutagenesis) using mutagen treat

www.encodeproject.org80

Lentiviral-driven discovery of cancer drug resistance mutations. Lentiviral-driven discovery of cancer drug resistance mutations

癌症耐药性

基因突变

Identifying resistance mutations in a drug target provides crucial information. Lentiviral transduction creates multiple types of mutations due to the error-prone nature of the HIV-1 reverse transcrip

NIAID Data Ecosystem90

Molecular approach of auditory neuropathy

听觉神经病

基因突变

INTRODUCTION: Mutations in the otoferlin gene are responsible for auditory neuropathy. OBJECTIVE: To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and

DataCite Commons2022-06-07 更新80

StoneRounds Case: SR591

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