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Q44500682-85599A2C-A974-43CD-912B-7390696266EE
Q44500682-85599A2C-A974-43CD-912B-7390696266EE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44500682-85599A2C-A974-43CD-912B-7390696266EE
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
Q44500682-85599A2C-A974-43CD-912B-7390696266EE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q44500682-85599A2C-A974-43CD-912B-7390696266EE
rank
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type
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Statement
wasDerivedFrom
b96b912ffc3c35942a101ee47eecffe86d840f13
P2860
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes