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Q33909884-98100E28-FF32-4801-B6D8-E04389436458
Q33909884-98100E28-FF32-4801-B6D8-E04389436458
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33909884-98100E28-FF32-4801-B6D8-E04389436458
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
P2860
Q33909884-98100E28-FF32-4801-B6D8-E04389436458
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33909884-98100E28-FF32-4801-B6D8-E04389436458
rank
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Statement
wasDerivedFrom
ced72c790024868502da1fb4ca269f16534ff59d
P2860
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I