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1.
Spieler, D. et al.: Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis. Mol. Genet. Genomic Med. 8:e1179 (2020)
2.
Westphal, D.S. et al.: Reclassification of genetic variants in children with long QT syndrome. Mol. Genet. Genomic Med. 8:e1300 (2020)