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Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125F
Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125F
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
P2860
Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37470127-6ACEB63D-BCC2-45CE-97E5-363C929A125F
rank
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type
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Statement
wasDerivedFrom
e6a24d29a30520ffdd45cae756b8ce8426e6b7bf
P2860
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.