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Q47908601-A2A5FB84-BBF1-4E62-8DAC-C1723102304B
Q47908601-A2A5FB84-BBF1-4E62-8DAC-C1723102304B
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http://www.wikidata.org/entity/statement/Q47908601-A2A5FB84-BBF1-4E62-8DAC-C1723102304B
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
P2860
Q47908601-A2A5FB84-BBF1-4E62-8DAC-C1723102304B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47908601-A2A5FB84-BBF1-4E62-8DAC-C1723102304B
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wasDerivedFrom
5819ffe2c749216f50f2f87a99efcb1f444febad
P2860
X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.