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Q38334617-A637013F-221B-4684-AFEC-47C9B107AB69
Q38334617-A637013F-221B-4684-AFEC-47C9B107AB69
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38334617-A637013F-221B-4684-AFEC-47C9B107AB69
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-A637013F-221B-4684-AFEC-47C9B107AB69
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38334617-A637013F-221B-4684-AFEC-47C9B107AB69
rank
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type
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wasDerivedFrom
2bad2ee508852567d3904dac621e2bbcccf1b758
P2860
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease