PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34608870-7 2021 A novel single frameshift pathogenic variant in CTBP1 (NM_001328.3:c.1315_1316delCA, p.Gln439ValfsTer84) was identified as the cause for HADDTS in the proband. gln439valfster84 87-103 C-terminal binding protein 1 Homo sapiens 48-53