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Q38334617-DE9CC161-8063-4AFB-A6C5-1C77BDEAA40D
Q38334617-DE9CC161-8063-4AFB-A6C5-1C77BDEAA40D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38334617-DE9CC161-8063-4AFB-A6C5-1C77BDEAA40D
A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.
P2860
Q38334617-DE9CC161-8063-4AFB-A6C5-1C77BDEAA40D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38334617-DE9CC161-8063-4AFB-A6C5-1C77BDEAA40D
rank
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type
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wasDerivedFrom
2bad2ee508852567d3904dac621e2bbcccf1b758
P2860
Identification of domains in human beta-hexosaminidase that determine substrate specificity