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Q35868131-3E41BF8F-ECD4-407E-8483-FD58A18EDD21
Q35868131-3E41BF8F-ECD4-407E-8483-FD58A18EDD21
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http://www.wikidata.org/entity/statement/Q35868131-3E41BF8F-ECD4-407E-8483-FD58A18EDD21
C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.
P2860
Q35868131-3E41BF8F-ECD4-407E-8483-FD58A18EDD21
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35868131-3E41BF8F-ECD4-407E-8483-FD58A18EDD21
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0f6141f926ce7d6fdb6b46d35af7e16f45e0e044
P2860
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.