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| Likely inborn error of metabolism - targeted testing not possible v1.45 | SSR4 | Rebecca Foulger Phenotypes for gene: SSR4 were changed from ?Congenital disorder of glycosylation, type Iy 300934 to Congenital disorder of glycosylation, type Iy 300934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SSR4 | Ellen McDonagh Added phenotypes ?Congenital disorder of glycosylation, type Iy 300934 for gene: SSR4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | SSR4 |
Ellen McDonagh gene: SSR4 was added gene: SSR4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SSR4 were set to 26264460 Phenotypes for gene: SSR4 were set to ?Congenital disorder of glycosylation, type Iy 300934 |
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