Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.010 GeneticVariation group BEFREE Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue. 10951251 2000