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Q31158465-654A1FB3-556E-42B3-9D0F-17815542E667
Q31158465-654A1FB3-556E-42B3-9D0F-17815542E667
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31158465-654A1FB3-556E-42B3-9D0F-17815542E667
A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
P2860
Q31158465-654A1FB3-556E-42B3-9D0F-17815542E667
BestRank
Statement
http://www.wikidata.org/entity/statement/Q31158465-654A1FB3-556E-42B3-9D0F-17815542E667
rank
NormalRank
type
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Statement
wasDerivedFrom
2899bf357b44038c2e03c4e8cc18f536751a337d
P2860
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.