A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease
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DOI: 10.3389/fgene.2022.1021037
Abstract: Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-associated proteins to the intraflagellar transport complex A.… read more here.
Keywords: pathogenic variant; fibrocystic disease; disease; renal hepatic ... See more keywords