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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal-onset mitochondrial disease

ChEBI2024-09-29 更新2026-07-12 收录

线粒体疾病遗传

"RNA研究"

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-MTAB-14251 数据链接链接失效反馈

官方服务：

资源简介：

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal-onset mitochondrial disease

应用场景：

创建时间：

2024-09-29

"RNA研究"

分子遗传学

Additional file 1. Table S1. RNAm_SNPs identified for BMI. Table S2. Replications of associations between RNAm_SNPs and BMI in East Asian population. Table S3. Associations between RNAm-SNPs and gene

Figshare2024-02-28 更新40

The SLC25A13 ASVs detected by cDNA analysis in the patient C0054.

遗传变异分析

线粒体疾病遗传

In this table, all the maternally-inherited ASVs but M-11 harbored r.329_468del. The nucleotide numbering was based on SLC25A13 cDNA sequence (GenBank: NM_014251), with +1 indicating the A of the ATG-

NIAID Data Ecosystem20

Additional file 4 of Small nucleolar RNA dysregulation and potential roles in bovine subclinical mastitis

"RNA研究"

乳腺炎分子病理

Supplementary Material 4. Table S4A Summary of snoRNA function and their rRNA target modification site in Stahylococcus aureus versus control group. Table S4B Summary of snoRNA function and their rRNA

DataCite Commons2025-09-12 更新10

Additional file 3: Table S3. of A quantitative genome-wide RNAi screen in C. elegans for antifungal innate immunity genes

抗真菌免疫基因

"RNA研究"

Results for Hipi clone candidates in the second and third round of screening; categorization of Hipi and Peni clones; clone verification and identification of potential target genes. (XLSX 112 kb)

Figshare2016-12-15 更新30

RNAseq of the spleen of Hbb(th3/+) mice transplanted with bone marrow from Tfr2-ko or Tfr2 wt mice

血液疾病模型

"RNA研究"

RNAseq of the spleen of Hbb(th3/+) mice transplanted with bone marrow from Tfr2-ko or Tfr2 wt mice

ChEBI2020-03-04 更新10