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Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
Kumar R et al.
Npj Genomic Medicine, 2022
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Kumar R et al.
Human Molecular Genetics, 2015
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