A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
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DOI: 10.1002/humu.24251
Abstract: Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined… read more here.
Keywords: nphp3 explains; several families; nphp3; variant nphp3 ... See more keywords