Application | Comment | Organism |
---|---|---|
medicine | two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
additional information | two Korean sisters with male pseudohermaphroditism, showing a homozygous deletion of the thymine at nucleotide position c.655, leading to a frameshift mutation predicted to result in abnormally long protein with an extended termination signal | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Korean sisters with male pseudohermaphroditism | - |