Literature record
Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.
PMID 29797489 | DOI 10.1111/ced.13610 · Clinical and experimental dermatology · 2018
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMA3 | “Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.” | 0.98 | hgnc_dict_v1 |
| gene | PLEC | “Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.” | 0.98 | hgnc_dict_v1 |
| population | Population | “Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.” | 0.80 | saudi_context_rules_v1 |