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Q40143025-805B07D6-4DCE-4001-80A2-5002198DAB1D
Q40143025-805B07D6-4DCE-4001-80A2-5002198DAB1D
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http://www.wikidata.org/entity/statement/Q40143025-805B07D6-4DCE-4001-80A2-5002198DAB1D
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
P2860
Q40143025-805B07D6-4DCE-4001-80A2-5002198DAB1D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40143025-805B07D6-4DCE-4001-80A2-5002198DAB1D
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wasDerivedFrom
9b51cd956158a8e51421f3b174f2fa060ac96074
P2860
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.