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1991 | 1 |
1992 | 1 |
2015 | 1 |
2024 | 0 |
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Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.
Am J Hum Genet. 1992 Aug;51(2):446-7.
Am J Hum Genet. 1992.
PMID: 1379415
Free PMC article.
No abstract available.
Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.
Yoon KL, Aprille JR, Ernst SG.
Yoon KL, et al.
Biochem Biophys Res Commun. 1991 May 15;176(3):1112-5. doi: 10.1016/0006-291x(91)90399-r.
Biochem Biophys Res Commun. 1991.
PMID: 1645537
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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