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| Infertility and Recurrent Pregnancy Loss v0.229 | POLR3B | Zornitza Stark Marked gene: POLR3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.229 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.229 | POLR3B | Zornitza Stark Classified gene: POLR3B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.229 | POLR3B | Zornitza Stark Gene: polr3b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.103 | POLR3B |
Jasmine Chew gene: POLR3B was added gene: POLR3B was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 25339210; 27512013; 26113998; 22036171; 22036172; 32319736; 26113998 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381 Review for gene: POLR3B was set to GREEN Added comment: Intolerome database- candidate gene for spontaneous miscarriage, FeRGI db- limited evidence for POI. Mouse evidence- i) PMID: 31221184-Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis. Using proteomics in a human cell line, POLR3B R103H mutation severely impairs assembly of the Pol III complex. Their mouse model indicates that the Polr3b R103H variant is embryonically lethal at or before mid-gestation, similarly to Polr3a−/−null mice , which may lead to early developmental arrest. Sources: Literature |
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