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Paper Title
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.
PubMed
Paper Journal Title
Am J Hum Genet
Paper Citation Count
141
Paper Publication Year
2012
Bio Mention
IFT-A, IFT140, IFT140 mutations, IFTs, Jeune syndrome, MSS, Mainzer-Saldino syndrome, chronic renal failure, ciliated cells, ciliopathy, fibroblasts, intraflagellar transport complex A
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