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| Infertility and Recurrent Pregnancy Loss v0.119 | DAP3 | Zornitza Stark Marked gene: DAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.119 | DAP3 | Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.119 | DAP3 | Zornitza Stark Classified gene: DAP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.119 | DAP3 | Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | DAP3 |
Jasmine Chew gene: DAP3 was added gene: DAP3 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAP3 were set to 39701103 Phenotypes for gene: DAP3 were set to Perrault syndrome 7, MIM# 621101 Review for gene: DAP3 was set to GREEN Added comment: PMID: 39701103- biallelic variants in 3 unrelated patients. Proteomic analysis in patient fibroblasts showed reduced DAP3 expression, reduced expression of respiratory chain complexes I, III, and IV, and decreased expression of proteins encompassing the small mitoribosomal subunit complex. Patient fibroblasts transduced with wildtype DAP3 demonstrated partial rescue of mitoribosomal MRPS7 (611974) and MRPS9 (611975) protein levels. Sources: Literature |
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