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Q35881857-75220507-7065-436A-A563-1DC1A7D18F90
Q35881857-75220507-7065-436A-A563-1DC1A7D18F90
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35881857-75220507-7065-436A-A563-1DC1A7D18F90
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.
P2860
Q35881857-75220507-7065-436A-A563-1DC1A7D18F90
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35881857-75220507-7065-436A-A563-1DC1A7D18F90
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wasDerivedFrom
83a6552bae54c2bd6256a7b74f350bd1bd52b244
P2860
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.