Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

• Autori principali: Lukáš Strych (Autore), Monika Černá (Autore), Markéta Hejnalová (Autore), Tomáš Zavoral (Autore), Pavla Komrsková (Autore), Jitka Tejcová (Autore), Ibrahim Bitar (Autore), Eva Sládková (Autore), Josef Sýkora (Autore), Ivan Šubrt (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2024-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variant...