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

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 detec...

Source: BMC Medical Genomics - January 22, 2024 Category: Genetics & Stem Cells Authors: Luk áš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora and Ivan Šubrt Tags: Research Source Type: research