https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204073
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs...
Ciliopathies presenting as inherited hepatorenal fibrocystic disorders are rare in humans and in dogs. We describe here a novel lethal ciliopathy in Norwich...
splice siterenal dysplasiahepatic fibrosisvariantcauses