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| Congenital Disorders of Glycosylation v0.231 | SLC10A7 | Zornitza Stark Marked gene: SLC10A7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.231 | SLC10A7 | Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.231 | SLC10A7 | Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.231 | SLC10A7 | Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.230 | SLC10A7 |
Zornitza Stark gene: SLC10A7 was added gene: SLC10A7 was added to Congenital Disorders of Glycosylation. Sources: Expert list Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC10A7 were set to 30082715; 29878199; 31191616 Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Review for gene: SLC10A7 was set to GREEN Added comment: More than 5 unrelated families reported with bi-allelic variants in this gene and skeletal dysplasia with multiple dislocations and amelogenesis imperfecta. Gene product has a putative role in the biosynthesis and trafficking of glycoproteins and glycosaminoglycans (proteoglycans). Sources: Expert list |
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