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Q41218828-2C8E7E6D-44B2-4F3E-94A6-7992DF3376F9
Q41218828-2C8E7E6D-44B2-4F3E-94A6-7992DF3376F9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41218828-2C8E7E6D-44B2-4F3E-94A6-7992DF3376F9
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection.
P2860
Q41218828-2C8E7E6D-44B2-4F3E-94A6-7992DF3376F9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41218828-2C8E7E6D-44B2-4F3E-94A6-7992DF3376F9
rank
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type
BestRank
Statement
wasDerivedFrom
b268752853d4bbcc0524fc28d3f44d0cd0685b8b
P2860
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies