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Q54313066-38F0BB67-D889-42D2-AA68-62E5B26F6F78
Q54313066-38F0BB67-D889-42D2-AA68-62E5B26F6F78
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-38F0BB67-D889-42D2-AA68-62E5B26F6F78
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
P2860
Q54313066-38F0BB67-D889-42D2-AA68-62E5B26F6F78
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-38F0BB67-D889-42D2-AA68-62E5B26F6F78
rank
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type
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Statement
wasDerivedFrom
d1f67a6fd5e4a0cb94d47b5fa54613d31f674351
P2860
Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity.