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Q40121445-8433D7A7-1127-49BE-8862-BFF1C9F4C095
Q40121445-8433D7A7-1127-49BE-8862-BFF1C9F4C095
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http://www.wikidata.org/entity/statement/Q40121445-8433D7A7-1127-49BE-8862-BFF1C9F4C095
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.
P2860
Q40121445-8433D7A7-1127-49BE-8862-BFF1C9F4C095
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40121445-8433D7A7-1127-49BE-8862-BFF1C9F4C095
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wasDerivedFrom
32d7bebb8ef6fdaa96ccd7129908eec39d5f6fc4
P2860
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.