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Q35881534-18EC2426-A099-4D50-8F76-5720BDDB47DD
Q35881534-18EC2426-A099-4D50-8F76-5720BDDB47DD
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http://www.wikidata.org/entity/statement/Q35881534-18EC2426-A099-4D50-8F76-5720BDDB47DD
Somatic mosaicism in a patient with neurofibromatosis type 1.
P2860
Q35881534-18EC2426-A099-4D50-8F76-5720BDDB47DD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35881534-18EC2426-A099-4D50-8F76-5720BDDB47DD
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wasDerivedFrom
6ae3ec5524ebcae1d72fbe9a979258c4c9a45345
P2860
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.