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Q28539242-79F15811-5795-45A9-B202-9DE72E4EA642
Q28539242-79F15811-5795-45A9-B202-9DE72E4EA642
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28539242-79F15811-5795-45A9-B202-9DE72E4EA642
NT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E protein
P2860
Q28539242-79F15811-5795-45A9-B202-9DE72E4EA642
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28539242-79F15811-5795-45A9-B202-9DE72E4EA642
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wasDerivedFrom
572d40db4fa4b3dd252d42dcd45ba05d63b3af6b
P2860
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.