| http://purl.uniprot.org/citations/32207550 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32207550 | http://www.w3.org/2000/01/rdf-schema#comment | "Multiple morphological abnormalities of the sperm flagella (MMAF) is a rare disease associated with male infertility. In our previous study, we identified a homozygous CFAP43 splice-site variant, c.3661-2delA, in a patient with MMAF. However, the mutational effect of this variant was unknown. Here, using a minigene assay, we demonstrated that the c.3661-2delA variant may cause exon-30 to be skipped, thus generating the p.E1221_K1256del protein. By secondary and three-dimensional structural biology prediction analysis, we found that the mutant protein became 'tighter' in comparison with the wild-type protein, resulting in amino acid rearrangements in CFAP43 protein structure. We elucidated the molecular mechanism of the c.3661-2delA splice-site variant causing MMAF in the current study."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.org/dc/terms/identifier | "doi:10.1111/and.13575"xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/author | "Guo J."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/author | "Li L."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/author | "Wang Y."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/author | "Yue W."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/author | "Feng F."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/name | "Andrologia"xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/pages | "e13575"xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/title | "Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella."xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://purl.uniprot.org/core/volume | "52"xsd:string |
| http://purl.uniprot.org/citations/32207550 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32207550 |
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