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Q54541542-116F6DB0-0CED-4D08-BC01-895889025BDC
Q54541542-116F6DB0-0CED-4D08-BC01-895889025BDC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54541542-116F6DB0-0CED-4D08-BC01-895889025BDC
Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
P2860
Q54541542-116F6DB0-0CED-4D08-BC01-895889025BDC
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54541542-116F6DB0-0CED-4D08-BC01-895889025BDC
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
bb749dd5974a4b1ef465829a4220af52918373a7
P2860
MutationTaster evaluates disease-causing potential of sequence alterations