Variant: rs57200223 

    present in Gene: KRT14
    present in Chromosome: 17
    Position on Chromosome: 41583287
    Alleles of this Variant: G/A;T

rs57200223 in KRT14 gene and Weber-Cockayne Syndrome PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 14987259 2004 Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 7506097 1993 Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

PMID 10733662 2000 Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.

PMID 12707098 2003 Epidermolysis bullosa simplex in Israel: clinical and genetic features.

PMID 7561171 1995 Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

PMID 7506606 1993 A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

PMID 9804357 1998 Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.

PMID 9284105 1997 Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.

PMID 12655565 2003 Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

PMID 12603865 2003 Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.