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| Prepair 1000+ v1.1566 | SSR4 | Andrew Coventry reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 4218363, 26264460, 33300232, 38805916; Phenotypes: Congenital disorder of glycosylation, type Iy MIM#300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SSR4 |
Zornitza Stark gene: SSR4 was added gene: SSR4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive |
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