PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34680898-2 2021 The skin fragility observed in the EBS is mainly caused by pathogenic variants in the KRT5 and KRT14 genes that compromise the mechanical stability of epithelial cells. ethylbenzene 35-38 keratin 5 Homo sapiens 86-90 34680898-3 2021 By performing DNA sequencing in a female patient with EBS, we found the pathogenic variant c.967G>A (p.Val323Met) in the KRT5 gene. ethylbenzene 54-57 keratin 5 Homo sapiens 121-125 31965605-2 2020 We report a case of EBS-MIGR with a novel heterozygous pathogenic mutation in exon 9 (frameshift deletion c.1650delC) and likely benign heterozygous mutation in exon 2 (missense c.591C > A) of keratin 5. ethylbenzene 20-23 keratin 5 Homo sapiens 193-202 31772641-1 2019 Epidermolysis bullosa simplex, generalized severe (EBS-gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (KRT5) or keratin 14 (KRT14). ethylbenzene 51-54 keratin 5 Homo sapiens 125-134 31772641-1 2019 Epidermolysis bullosa simplex, generalized severe (EBS-gen sev) is one of the major forms of EBS, caused by mutations of the keratin 5 (KRT5) or keratin 14 (KRT14). ethylbenzene 51-54 keratin 5 Homo sapiens 136-140