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Q54313066-250DA41A-DB87-49B4-9615-E862FAA834D1
Q54313066-250DA41A-DB87-49B4-9615-E862FAA834D1
BestRank
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http://www.wikidata.org/entity/statement/Q54313066-250DA41A-DB87-49B4-9615-E862FAA834D1
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
P2860
Q54313066-250DA41A-DB87-49B4-9615-E862FAA834D1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-250DA41A-DB87-49B4-9615-E862FAA834D1
rank
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type
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wasDerivedFrom
d1f67a6fd5e4a0cb94d47b5fa54613d31f674351
P2860
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.