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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Thiffault I, et al. Among authors: t abdelmoity a. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a003970. doi: 10.1101/mcs.a003970. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32358097 Free PMC article.