Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.700 | CausalMutation | CLINVAR | Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. | 27544590 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. | 25155989 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa. | 19439919 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa. | 17916216 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. | 16484981 | 2006 |
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|
A | 0.700 | CausalMutation | CLINVAR | High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa. | 15888141 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. | 15816848 | 2005 |
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|
A | 0.700 | CausalMutation | CLINVAR | Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis. | 12653705 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. | 10504458 | 1999 |