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Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

23 Oct 2019

Abstract excerpt

STUDY QUESTION: Can exome sequencing identify new genetic causes of globozoospermia? SUMMARY ANSWER: Exome sequencing in 15 cases of unexplained globozoospermia revealed deleterious mutations in seven new genes, of which two have been validated as causing globozoospermia when knocked out in mouse models. WHAT IS KNOWN ALREADY: Globozoospermia is a rare form of male infertility characterised by round-headed sperm...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Sexual Differentiation and Disorders
Sperm and Testicular Function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31985809
DOI: 10.1093/humrep/dez246

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