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COL7A1 mutation database
Provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa DEB patients and their associated COL7A1 mutations. The international dystrophic epidermolysis bullosa patient registry also collects data about the genotypes (i.e., the combinations of mutations in RDEB), patients, and clinical and molecular phenotypes in which they are involved. Lists contains all the phenotypes ever found in combination with a certain genotype including the reported exceptions to that most likely outcome.
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