A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
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Olinger E, et al. Among authors: rahim ka.
Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26.
Hum Mutat. 2021.
PMID: 34212438
Free PMC article.