Application | Comment | Organism |
---|---|---|
medicine | a homozygous variant consisting of a 5-bp duplication leads to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregates with the disease of intellectual disability in 26 genotyped family members | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | a homozygous variant consisting of a 5-bp duplication leads to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregates with the disease of intellectual disability in 26 genotyped family members | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P29218 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
IMPA1 | - |
Homo sapiens |