PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 33158637-5 2021 Via whole-exome sequencing, we identified a novel homozygous missense variant (c.1399C > T, p.Pro467Ser) in PNPT1 (NM_033109). pro467ser 94-103 polyribonucleotide nucleotidyltransferase 1 Homo sapiens 108-113