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2020 | 1 |
2021 | 2 |
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Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain. 2021 Dec 31;144(12):3597-3610. doi: 10.1093/brain/awab313.
Brain. 2021.
PMID: 34415310
Free PMC article.
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZC, Jhangiani SN, Lupski JR, Baple EL, Crosby AH.
Rickman OJ, et al.
Parkinsonism Relat Disord. 2021 Jan;82:84-86. doi: 10.1016/j.parkreldis.2020.10.041. Epub 2020 Nov 11.
Parkinsonism Relat Disord. 2021.
PMID: 33260061
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