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Q37413366-0F54DAC5-89D4-47BC-873E-5EC15DDD039F
Q37413366-0F54DAC5-89D4-47BC-873E-5EC15DDD039F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37413366-0F54DAC5-89D4-47BC-873E-5EC15DDD039F
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.
P2860
Q37413366-0F54DAC5-89D4-47BC-873E-5EC15DDD039F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37413366-0F54DAC5-89D4-47BC-873E-5EC15DDD039F
rank
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type
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Statement
wasDerivedFrom
28dfd356575962ae5331c5e996cc990fc9371ae3
P2860
A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.