PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 33100873-4 2020 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 135-150 aminoadipate-semialdehyde synthase Homo sapiens 219-223