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Q28278336-7E4E4BD7-1E12-45BA-904B-4604C7B141AE
Q28278336-7E4E4BD7-1E12-45BA-904B-4604C7B141AE
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Statement
http://www.wikidata.org/entity/statement/Q28278336-7E4E4BD7-1E12-45BA-904B-4604C7B141AE
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
P2860
Q28278336-7E4E4BD7-1E12-45BA-904B-4604C7B141AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28278336-7E4E4BD7-1E12-45BA-904B-4604C7B141AE
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Statement
wasDerivedFrom
30482669efa638bae9fbffe1e68597eafa7e5270
P2860
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.