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Q54313066-36BAA12C-49EA-44A6-83D8-9C3CBC1891B1
Q54313066-36BAA12C-49EA-44A6-83D8-9C3CBC1891B1
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http://www.wikidata.org/entity/statement/Q54313066-36BAA12C-49EA-44A6-83D8-9C3CBC1891B1
Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.
P2860
Q54313066-36BAA12C-49EA-44A6-83D8-9C3CBC1891B1
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54313066-36BAA12C-49EA-44A6-83D8-9C3CBC1891B1
rank
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type
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Statement
wasDerivedFrom
d1f67a6fd5e4a0cb94d47b5fa54613d31f674351
P2860
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome