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Q44500682-8DC383E3-3738-4109-930F-24E5E1FB3C2B
Q44500682-8DC383E3-3738-4109-930F-24E5E1FB3C2B
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http://www.wikidata.org/entity/statement/Q44500682-8DC383E3-3738-4109-930F-24E5E1FB3C2B
Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
P2860
Q44500682-8DC383E3-3738-4109-930F-24E5E1FB3C2B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44500682-8DC383E3-3738-4109-930F-24E5E1FB3C2B
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wasDerivedFrom
b96b912ffc3c35942a101ee47eecffe86d840f13
P2860
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.