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Q33883998-AE92D7C7-E481-492B-9B82-09F04543D3FA
Q33883998-AE92D7C7-E481-492B-9B82-09F04543D3FA
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http://www.wikidata.org/entity/statement/Q33883998-AE92D7C7-E481-492B-9B82-09F04543D3FA
Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?
P2860
Q33883998-AE92D7C7-E481-492B-9B82-09F04543D3FA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33883998-AE92D7C7-E481-492B-9B82-09F04543D3FA
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wasDerivedFrom
16417f6bf0f7327b2591074a8040a689a5f0964d
P2860
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I