WES identified variants of MTO1 gene

NIAID Data Ecosystem2026-05-10 收录

基因变异与疾病关联

线粒体疾病遗传

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP340995 数据链接链接失效反馈

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资源简介：

clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation

创建时间：

2025-10-08

Disease-associated mitochondrial mutations and the evolution of primate mitogenomes

线粒体疾病遗传

灵长类基因组

Several human diseases have been associated with mutations in mitochondrial genes comprising a set of confirmed and reported mutations according to the MITOMAP database. An analysis of complete mitoge

Figshare2017-05-17 更新70

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

The molecular and clinical details of variants identified in EB patients.

大疱性表皮松解症遗传学

基因变异与疾病关联

The molecular and clinical details of variants identified in EB patients.

Figshare2025-09-16 更新20

Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 2).

结构生物学

线粒体疾病遗传

Cryo-EM structure NDUFS4 knockout complex I from Mus musculus heart (Class 2). Descriptor: 1,2-DIACYL-SN-GLYCERO-3-PHOSPHOCHOLINE, 1,2-Distearoyl-sn-glycerophosphoethanolamine, Acyl carrier protein, .

Protein Data Bank Japan2025-12-17 更新50

The development of mitochondrial medicine.

线粒体疾病遗传

线粒体医学

Primary defects in mitochondrial function are implicated in over 100 diseases, and the list continues to grow. Yet the first mitochondrial defect--a myopathy--was demonstrated only 35 years ago. The f

PubMed Central1994-09-13 更新20

WES identified variants of MTO1 gene

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