Article

A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia

2022-06-06

Abstract excerpt

Multiple morphological abnormalities of the sperm ﬂagella (MMAF) is an important cause of male infertility and is defined as absent, short, coiled, bent irregular flagella. In this study, we identified a novel missense mutation (c.1414G>A; p.V472M) in Cilia and flagella associated protein 47 ( CFAP4 7, NG_016381.2) in two unrelated patients with asthenoteratozoospermia. In addition to the typical MMAF phenotype...

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Literature Corpus work: 592312cb-eec8-598e-829a-1420efa7020f
DOI: 10.22541/au.165451327.74208611/v1

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