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TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Clin Genet. 2022 Feb;101(2):214-220. doi: 10.1111/cge.14085. Epub 2021 Nov 15.
Clin Genet. 2022.
PMID: 34741306
Free PMC article.
Incidence of PKAN determined by bioinformatic and population-based analysis of ~140,000 humans.
Brezavar D, Bonnen PE.
Brezavar D, et al.
Mol Genet Metab. 2019 Dec;128(4):463-469. doi: 10.1016/j.ymgme.2019.09.002. Epub 2019 Sep 12.
Mol Genet Metab. 2019.
PMID: 31540697
Free PMC article.
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LONP1 de novo dominant mutation causes mitochondrial encephalopathy with loss of LONP1 chaperone activity and excessive LONP1 proteolytic activity.
Besse A, Brezavar D, Hanson J, Larson A, Bonnen PE.
Besse A, et al. Among authors: brezavar d.
Mitochondrion. 2020 Mar;51:68-78. doi: 10.1016/j.mito.2020.01.004. Epub 2020 Jan 7.
Mitochondrion. 2020.
PMID: 31923470
Free PMC article.
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