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A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.
Jafari Khamirani H, Palicharla VR, Dastgheib SA, Dianatpour M, Imanieh MH, Tabei SS, Besse W, Mukhopadhyay S, Liem KF Jr. Jafari Khamirani H, et al. Among authors: tabei ss. Front Genet. 2022 Oct 7;13:1021037. doi: 10.3389/fgene.2022.1021037. eCollection 2022. Front Genet. 2022. PMID: 36276950 Free PMC article.
A novel PTRH2 missense mutation causing IMNEPD: a case report.
Khamirani HJ, Zoghi S, Dianatpour M, Jankhah A, Tabei SS, Mohammadi S, Dastgheib SA. Khamirani HJ, et al. Among authors: tabei ss. Hum Genome Var. 2021 Jun 10;8(1):23. doi: 10.1038/s41439-021-00147-9. Hum Genome Var. 2021. PMID: 34112751 Free PMC article.
15 results