Variant: rs111730406 

    present in Gene: PLEC
    present in Chromosome: 8
    Position on Chromosome: 143927993
    Alleles of this Variant: C/G;T

rs111730406 in PLEC gene and EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

rs111730406 in PLEC gene and Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

rs111730406 in PLEC gene and Epidermolysis Bullosa Simplex With Pyloric Atresia PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

rs111730406 in PLEC gene and Epidermolysis bullosa simplex, Ogna type PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.

rs111730406 in PLEC gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q PMID 23289980 2013 Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.