Article

Embryonic and foetal expression patterns of the ciliopathy gene <i>CEP164</i>

2019-08-20

Abstract excerpt

Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive kidney failure and other clinical manifestations. Mutations in centrosomal protein 164 kDa ( CEP164 ), also known as NPHP15 , have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome...

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Literature Corpus work: 44e86a75-c33d-52d2-b80b-bd0fc47315c6
DOI: 10.1101/741538

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