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| BabyScreen+ newborn screening v0.2093 | PPIB | Zornitza Stark Marked gene: PPIB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2093 | PPIB | Zornitza Stark Gene: ppib has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2093 | PPIB |
Zornitza Stark gene: PPIB was added gene: PPIB was added to Baby Screen+ newborn screening. Sources: Expert list skeletal tags were added to gene: PPIB. Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIB were set to 19781681; 32392875 Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440 Review for gene: PPIB was set to RED Added comment: Established gene-diseases association. Most reported families have had severe OI, presenting perinatally, therefore exclude. Sources: Expert list |
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