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| Mendeliome v1.2421 | EXO1 | Zornitza Stark Marked gene: EXO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2421 | EXO1 | Zornitza Stark Gene: exo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2421 | EXO1 | Zornitza Stark Classified gene: EXO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2421 | EXO1 | Zornitza Stark Gene: exo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2420 | EXO1 |
Zornitza Stark gene: EXO1 was added gene: EXO1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EXO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXO1 were set to 39595984; 32772095; 36385415 Phenotypes for gene: EXO1 were set to Primary ovarian failure, MONDO:0005387, EXO1-related Review for gene: EXO1 was set to GREEN Added comment: 1. PMID:39595984- heterozygous nonsense variant (p.Glu829Ter) in an European female with diminished ovarian reserve 2. PMID:32772095- heterozygous missense variant (p.Thr52Ser) in a Chinese patient with POI, which impaired the meiotic process in budding yeast cells and analysis of transfected HEK293 cells demonstrated impaired efficiency of homologous recombination repair for DNA double-stranded breaks with the mutant compared to wildtype EXO1 3. PMID:36385415- heterozygous nonsense variant (p.Tyr742Ter) in a case (C23) with recurrent pregnancy loss (RPL), primary infertility (PI), recurrent implantation failure (RIF) Sources: Literature |
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