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Q52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9
Q52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9
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Statement
http://www.wikidata.org/entity/statement/Q52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
P2860
Q52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q52754688-534F9C00-4DF9-4047-A2C4-9F533CC15AC9
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wasDerivedFrom
b01cb0bb19a2fa008dc63b7f57a749e85e1c4a8b
P2860
Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.