Variant: rs146794392 

    present in Gene: MIR4260;LAMB3
    present in Chromosome: 1
    Position on Chromosome: 209623999
    Alleles of this Variant: G/A;T

rs146794392 in MIR4260;LAMB3 gene and Herlitz Disease PMID 16473856 2006 Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

PMID 12813757 2003 Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

PMID 8824879 1996 Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

PMID 9160387 1997 Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.

PMID 21801158 2011 Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.