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1
Q37557996-125A312C-9C1A-41EF-95AA-12B96F9758F2
Q37557996-125A312C-9C1A-41EF-95AA-12B96F9758F2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37557996-125A312C-9C1A-41EF-95AA-12B96F9758F2
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
P2860
Q37557996-125A312C-9C1A-41EF-95AA-12B96F9758F2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37557996-125A312C-9C1A-41EF-95AA-12B96F9758F2
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
ef9861b2f92bf2aef9c0ed4285aba4059f32a62f
P2860
Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV.