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Undiagnosed metabolic disorders v1.401 SLC6A8 Catherine Snow Classified gene: SLC6A8 as Green List (high evidence)
Undiagnosed metabolic disorders v1.401 SLC6A8 Catherine Snow Gene: slc6a8 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.400 SLC6A8 Catherine Snow reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21660517; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh commented on SLC6A8
Undiagnosed metabolic disorders SLC6A8 Sarah Leigh reviewed SLC6A8