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Q34139959-EAD7C870-0A63-4228-98F1-465E80DF48AE
Q34139959-EAD7C870-0A63-4228-98F1-465E80DF48AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34139959-EAD7C870-0A63-4228-98F1-465E80DF48AE
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
P2860
Q34139959-EAD7C870-0A63-4228-98F1-465E80DF48AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34139959-EAD7C870-0A63-4228-98F1-465E80DF48AE
rank
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Statement
wasDerivedFrom
6211ab64db537d689cc90fe588f273e6fd45d848
P2860
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.