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Q36988152-886707F4-2647-4D38-A15B-2B614A866E42
Q36988152-886707F4-2647-4D38-A15B-2B614A866E42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36988152-886707F4-2647-4D38-A15B-2B614A866E42
Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic.
P2860
Q36988152-886707F4-2647-4D38-A15B-2B614A866E42
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36988152-886707F4-2647-4D38-A15B-2B614A866E42
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d071cf3307bddf6d45b1dfce28eb8a686775000e
P2860
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.