Literature record
The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.
PMID 29250776 | DOI 10.1111/cge.13131 · Clinical genetics · 2018 · View on PubMed ↗
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL5A1 | “The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Ehlers-Danlos syndrome | “The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |