Resources & publications
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2017Journal (source)Am. J. Hum. Genet.Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...
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2020Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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2017Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...