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Article

Novel IFT140 variants cause spermatogenic dysfunction in humans

8 Aug 2019

Abstract excerpt

BACKGROUND: The intraflagellar transport protein 140 homolog (IFT140) is involved in the process of intraflagellar transport (IFT), a process that is essential for the formation and maintenance of most eukaryotic cilia and flagella. Variants IFT140 have been reported to account for ciliopathy but association with male fertility has never been described in humans. Here we report the identification of two novel...

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PMID: 31397098
DOI: 10.1002/mgg3.920

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