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Q47962229-DD85EAC0-1A00-4B14-8D8A-4A0D3CC9C6C8
Q47962229-DD85EAC0-1A00-4B14-8D8A-4A0D3CC9C6C8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47962229-DD85EAC0-1A00-4B14-8D8A-4A0D3CC9C6C8
Female X-linked Alport syndrome with somatic mosaicism.
P2860
Q47962229-DD85EAC0-1A00-4B14-8D8A-4A0D3CC9C6C8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47962229-DD85EAC0-1A00-4B14-8D8A-4A0D3CC9C6C8
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type
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Statement
wasDerivedFrom
87a6116a5c5e21c18b10907aac3dcdca052c361c
P2860
Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.