Study

Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions

Study ID Alternative Stable ID Type
EGAS00001003148 Whole Genome Sequencing

Study Description

NA

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001004271
The dataset comprises of seven samples described below 1. Muscle samples from three patients with late-onset PEO caused by compound heterozygous POLG variants M0305 POLG W748S/R1096C M1105 POLG A467T/T251I+P587L M1804 POLG A467T/X1240G+35aa 2. Muscle sample from a patient with adPEO with heterozygous TWNK variants M0230 TWNK p.Arg357Pro 3. Blood control samples from two patients with late-onset PEO caused by compound heterozygous POLG variants DNA2012-1630_S1 POLG ... (Show More)
NextSeq 500 8

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