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Q42752301-8208D217-572E-4036-82C6-95F936FA6E46
Q42752301-8208D217-572E-4036-82C6-95F936FA6E46
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Statement
http://www.wikidata.org/entity/statement/Q42752301-8208D217-572E-4036-82C6-95F936FA6E46
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
P2860
Q42752301-8208D217-572E-4036-82C6-95F936FA6E46
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42752301-8208D217-572E-4036-82C6-95F936FA6E46
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wasDerivedFrom
56adcb7110d106ae21481eaa621b2317250c8936
P2860
A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.