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Q40121445-87C0184F-3467-4A32-9248-28422AF9E1B9
Q40121445-87C0184F-3467-4A32-9248-28422AF9E1B9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40121445-87C0184F-3467-4A32-9248-28422AF9E1B9
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.
P2860
Q40121445-87C0184F-3467-4A32-9248-28422AF9E1B9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40121445-87C0184F-3467-4A32-9248-28422AF9E1B9
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
e42b4d4c96375844cbe55d4c96cce911f37fdafe
P2860
ADULT syndrome due to an R243W mutation in TP63