Chain1351: Pyridoxine Responsive Homocystinuria
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 |
---|---|
CBS | chr21:44478972,rs5742905,chr21:44484041,chr21:44485755,chr21:44479409 |