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Q30474083-8413F615-1419-4E47-83C8-A5F15015F4D4
Q30474083-8413F615-1419-4E47-83C8-A5F15015F4D4
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Statement
http://www.wikidata.org/entity/statement/Q30474083-8413F615-1419-4E47-83C8-A5F15015F4D4
Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function.
P2860
Q30474083-8413F615-1419-4E47-83C8-A5F15015F4D4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30474083-8413F615-1419-4E47-83C8-A5F15015F4D4
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wasDerivedFrom
80333ffdb42dea7874e7f47c1c8b897746b86da5
P2860
Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.