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1 records shown · first 60Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with CD151 tetraspanin defect: A case report.
PMID 38188895 | PMCID PMC10768470 · International journal of health sciences · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.493C>T | “Whole genome sequencing results indicated a homozygous pathogenic variant identified in the CD151 gene (c.493C>T p.(Arg165*), which was consistent with a genetic diagnosis of autosomal recessive nephropathy with pretibial EB and deafness syndrome.” | 0.95 | hgvs_regex_v1 |
| gene | CD151 | “Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with CD151 tetraspanin defect: A case report.” | 0.98 | hgnc_dict_v1 |
| phenotype | nephrotic syndrome | “Nephrotic syndrome: Pretibial epidermolysis bullosa in a patient with CD151 tetraspanin defect: A case report.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hearing loss | “Nephrotic syndrome (NS)-epidermolysis bullosa (EB) sensorineural deafness syndrome is an autosomal recessive rare genetic disease caused by a CD151 gene homozygous mutation on chromosome 11p15.5.” | 0.93 | phenotype_alias_lexicon_v2 |