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Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
J Clin Med. 2022 Oct 29;11(21):6415. doi: 10.3390/jcm11216415.
J Clin Med. 2022.
PMID: 36362641
Free PMC article.
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M, Riedhammer KM, Rad A, Torbati PN, Berutti R, Schüle I, Schroda S, Meitinger T, Ćomić J, Bojd SS, Baranzehi T, Shojaei A, Azarfar A, Khazaei MR, Köttgen A, Backofen R, Karimiani EG, Hoefele J, Schmidts M.
Najafi M, et al. Among authors: baranzehi t.
Front Pediatr. 2022 Sep 22;10:974840. doi: 10.3389/fped.2022.974840. eCollection 2022.
Front Pediatr. 2022.
PMID: 36245711
Free PMC article.
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