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Q52954400-A4545792-10E2-46C3-853F-5E14099920BB
Q52954400-A4545792-10E2-46C3-853F-5E14099920BB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52954400-A4545792-10E2-46C3-853F-5E14099920BB
Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.
P2860
Q52954400-A4545792-10E2-46C3-853F-5E14099920BB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52954400-A4545792-10E2-46C3-853F-5E14099920BB
rank
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type
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wasDerivedFrom
76981c08bc82f87c0907027e533c006a01564d03
P2860
BMS1 is mutated in aplasia cutis congenita