We report the molecular and genotype–phenotype analyses of 31 patients with SMS who carry 17p11.2 deletions or mutations in the RAI1 gene. Methods: Patients with SMS were evaluated by ...

The National Center for Biotechnology Information has created the dbGaP public repository for individual-level phenotype, exposure, genotype and sequence data and the associations between them.

when the enzyme does not work properly, high levels of phenylalanine can harm the development of the nervous system in young children. The genetic variants that an organism has makes up its genotype.

If you get a mutation in coding DNA, then the sequence of DNA could be changed. Changing the sequence of DNA can change the amino acids that make up the protein. This could have huge consequences.