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资源简介：
Top 23 heteroplasmy SNPs: ‘Hot-spots’.
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创建时间：
2021-01-29
相关数据集
Homo sapiens Raw sequence reads. Homo sapiens
Abstract; Heteroplasmy—the presence of multiple mitochondrial DNA (mtDNA) haplotypes in an individual—can lead to numerous mitochondrial diseases. The presentation of such diseases depends on the freq
NIAID Data Ecosystem80
Very Short Mitochondrial DNA Fragments and Heteroplasmy in Human Plasma. Homo sapiens
Background: Cell free DNA (cfDNA) in plasma has received increasing attention and has been studied in a broad range of clinical conditions implicating inflammation, cancer, and aging. However, few stu
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Complete list of heteroplasmic sites.
The numbers are the percentages of non-reference alleles as defined by the Cambridge Reference Sequence, NC_012920.1. The “-” denotes no heteroplasmy detected above the threshold of 1%.
Figshare2015-12-02 更新20
Supplementary Data File 12: Bulk muscle heteroplasmic load
Bulk muscle heteroplasmic load data from the study "Mitochondrial complex I deficiency occurs in skeletal muscle of a subgroup of individuals with Parkinson’s disease".
DataCite Commons2025-02-25 更新50
Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder
Increasing clinical and biochemical evidence implicate mitochondrial dysfunction in the pathophysiology of Autism Spectrum Disorder (ASD), but little is known about the biological basis for this conne
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