PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 30835347-5 2019 RESULTS: Sequencing analysis has identified a heterozygous c.269C>T (p.S90L) mutation in the BSCL2 gene, which resulted in replacement of Serine (TCG) to Leucine (TTG). TMG-chitotriomycin 146-149 BSCL2 lipid droplet biogenesis associated, seipin Homo sapiens 93-98