Pub. Date : 2020 Nov
PMID : 33100873
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Different bioinformatics analysis done for WES data and we identified two novel mutations one as frameshift mutation c.606_607delGA, p.Ser282CysfsTer9 in the PUS7 gene and splice acceptor variants c.1767-1 G > A in the AASS gene has been reported. | ser282cysfster9 | aminoadipate-semialdehyde synthase | Homo sapiens |