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Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

11 Jul 2019

Abstract excerpt

Multiple morphological anomalies of the sperm flagella (MMAF syndrome) is a severe male infertility phenotype which has so far been formally linked to the presence of biallelic mutations in nine genes mainly coding for axonemal proteins overexpressed in the sperm flagellum. Homozygous mutations in QRICH2, a gene coding for a protein known to be required for stabilizing proteins involved in sperm flagellum...

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Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Reproductive Biology and Fertility
Sperm and Testicular Function

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31292949
DOI: 10.1111/cge.13604

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