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2002 | 1 |
2004 | 1 |
2017 | 1 |
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.
Lamantea E, et al.
Ann Neurol. 2002 Aug;52(2):211-9. doi: 10.1002/ana.10278.
Ann Neurol. 2002.
PMID: 12210792
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Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
Lamantea E, Zeviani M.
Lamantea E, et al.
Ann Neurol. 2004 Sep;56(3):454-5. doi: 10.1002/ana.20219.
Ann Neurol. 2004.
PMID: 15349879
No abstract available.
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