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Q54313066-D5A6EAEC-9047-461C-97B4-9BFD6DD18E53
Q54313066-D5A6EAEC-9047-461C-97B4-9BFD6DD18E53
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-D5A6EAEC-9047-461C-97B4-9BFD6DD18E53
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
P1476
Q54313066-D5A6EAEC-9047-461C-97B4-9BFD6DD18E53
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-D5A6EAEC-9047-461C-97B4-9BFD6DD18E53
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
76ffc631afddeef7d0131820d86c76be019e5637
P1476
Whole exome sequencing identif
......
nd Treacher Collins syndromes.
@en