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Year | Number of Results |
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1996 | 1 |
2001 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 54148
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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069.
Hum Mol Genet. 2023.
PMID: 37133451
The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders.
Kenmochi N, Suzuki T, Uechi T, Magoori M, Kuniba M, Higa S, Watanabe K, Tanaka T.
Kenmochi N, et al.
Genomics. 2001 Sep;77(1-2):65-70. doi: 10.1006/geno.2001.6622.
Genomics. 2001.
PMID: 11543634
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Leigh syndrome: clinical features and biochemical and DNA abnormalities.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR.
Rahman S, et al.
Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311.
Ann Neurol. 1996.
PMID: 8602753
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