Application | Comment | Organism |
---|---|---|
medicine | homozygous splice variant NM_024740.2: c.1173+2T4A in the ALG9 gene causes rare lethal autosomal recessive Gillessen-Kaesbach-Nishimura skeletal dysplasia. Skipping of exon 10 leads to shorter RNA and results in an increase in monoglycosylated transferrin | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q9H6U8 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
ALG9 | - |
Homo sapiens |