Article

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to cilium

2021-07-12

Abstract excerpt

<title>Abstract</title> <p>The term “ciliopathy” refers to a group of over 35 rare disorders characterized by defective cilia and many overlapping clinical features, such as hydrocephalus, cerebellar vermis hypoplasia, polydactyly, and retinopathy. Even though many genes have been implicated in ciliopathies, the genetic pathogenesis in certain cases remains still undisclosed. Here, we identified a homozygous trun...

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Literature Corpus work: 0f4d63c0-eae6-5f36-90a5-eb3be0eefc01
DOI: 10.21203/rs.3.rs-622797/v1

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