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Q33909884-18F75FF8-15F5-401B-A685-9FD40037561A
Q33909884-18F75FF8-15F5-401B-A685-9FD40037561A
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Statement
http://www.wikidata.org/entity/statement/Q33909884-18F75FF8-15F5-401B-A685-9FD40037561A
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
Q33909884-18F75FF8-15F5-401B-A685-9FD40037561A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33909884-18F75FF8-15F5-401B-A685-9FD40037561A
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wasDerivedFrom
ced72c790024868502da1fb4ca269f16534ff59d
P2860
Intron self-complementarity enforces exon inclusion in a yeast pre-mRNA