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Q50119456-2A29A992-108C-4C80-A83E-65CF541993DA
Q50119456-2A29A992-108C-4C80-A83E-65CF541993DA
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Statement
http://www.wikidata.org/entity/statement/Q50119456-2A29A992-108C-4C80-A83E-65CF541993DA
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature.
P2860
Q50119456-2A29A992-108C-4C80-A83E-65CF541993DA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50119456-2A29A992-108C-4C80-A83E-65CF541993DA
rank
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Statement
wasDerivedFrom
a6c7b7567fc2c857140bab43e9e5806dc5ad023c
P2860
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.