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Resolving complexity in mitochondrial disease: Towards precision medicine.
Mol Genet Metab. 2019 Sep-Oct;128(1-2):19-29. doi: 10.1016/j.ymgme.2019.09.003. Epub 2019 Sep 14.
Mol Genet Metab. 2019.
PMID: 31648942
Free article.
Review.
T cell differentiation drives the negative selection of pathogenic mitochondrial DNA variants.
Franklin IG, Milne P, Childs J, Boggan RM, Barrow I, Lawless C, Gorman GS, Ng YS, Collin M, Russell OM, Pickett SJ.
Franklin IG, et al. Among authors: boggan rm.
Life Sci Alliance. 2023 Aug 31;6(11):e202302271. doi: 10.26508/lsa.202302271. Print 2023 Nov.
Life Sci Alliance. 2023.
PMID: 37652671
Free PMC article.
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Penetrance and expressivity of mitochondrial variants in a large clinically unselected population.
Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF, Pickett SJ, Hattersley AT, Weedon MN, Patel KA.
Cannon SJ, et al. Among authors: boggan rm.
Hum Mol Genet. 2024 Feb 18;33(5):465-474. doi: 10.1093/hmg/ddad194.
Hum Mol Genet. 2024.
PMID: 37988592
Free PMC article.
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