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| Miscellaneous Metabolic Disorders v0.273 | RBP4 | Zornitza Stark Marked gene: RBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.273 | RBP4 | Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.273 | RBP4 | Zornitza Stark Classified gene: RBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.273 | RBP4 | Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.272 | RBP4 |
Zornitza Stark gene: RBP4 was added gene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788 Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Review for gene: RBP4 was set to GREEN Added comment: Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells. At least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models. Sources: Expert list |
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