Chain394: Congenital Disorder of Glycosylation, Type Ia
This is a rare disease.
Example use A
Rare disease screening of newborns or adults thinking of having children. Could also be used as part of a comprehensive analysis of a person's genes.
Developer
Dr. Colby
Genetic info
Genes | Genetic variants |
---|---|
PMM2 | chr16:8904945,chr16:8898638,chr16:8905010,chr16:8941663,chr16:8895720 |