Pub. Date : 2016 Nov/Dec
PMID : 25489661
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Genetic analysis of glycogen branching enzyme 1 gene (GBE1) was performed in parents and showed a novel deletion of 1 nucleotide, c.1937delT, affecting the mother and a mutation affecting a consensus splice site, c.691+2T>C, in the father. | Glycogen | 1,4-alpha-glucan branching enzyme 1 | Homo sapiens |