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Q54313066-1EB1C4F9-F037-4676-AC38-34DA45C31C2E
Q54313066-1EB1C4F9-F037-4676-AC38-34DA45C31C2E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-1EB1C4F9-F037-4676-AC38-34DA45C31C2E
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
P356
Q54313066-1EB1C4F9-F037-4676-AC38-34DA45C31C2E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-1EB1C4F9-F037-4676-AC38-34DA45C31C2E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
76ffc631afddeef7d0131820d86c76be019e5637
P356
10.1002/AJMG.A.36799
http://www.w3.org/2001/XMLSchema#string
P356
AJMG.A.36799