Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella
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In this study, we investigated the role of a newly identified homozygous variant (c.1245 + 6T > C) in the CFAP61 gene in the development of multiple morphologically abnormal flagella (MMAF) in an infertile patient. Using exome sequencing, we identified this va... ...
