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Q35103765-9B684E9B-B2F2-4A12-981E-9435C209024E
Q35103765-9B684E9B-B2F2-4A12-981E-9435C209024E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35103765-9B684E9B-B2F2-4A12-981E-9435C209024E
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.
P2860
Q35103765-9B684E9B-B2F2-4A12-981E-9435C209024E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35103765-9B684E9B-B2F2-4A12-981E-9435C209024E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
b56380e70b3184071faf4fb9ad5ce16dc531e604
P2860
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.