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Article

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

24 Jul 2019

Abstract excerpt

The use of high-throughput sequencing techniques has allowed the identification of numerous mutations in genes responsible for severe astheno-teratozoospermia due to multiple morphological abnormalities of the sperm flagella (MMAF). However, more than half of the analysed cases remain unresolved suggesting that many yet uncharacterised gene defects account for this phenotype. Based on whole-exome sequencing data...

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PMID: 31621862
DOI: 10.1093/humrep/dez166

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