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Q36927111-387DED33-9B5F-4B9E-B89B-5718D46AED8E
Q36927111-387DED33-9B5F-4B9E-B89B-5718D46AED8E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36927111-387DED33-9B5F-4B9E-B89B-5718D46AED8E
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy
P2860
Q36927111-387DED33-9B5F-4B9E-B89B-5718D46AED8E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36927111-387DED33-9B5F-4B9E-B89B-5718D46AED8E
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Statement
wasDerivedFrom
a3f231a80460570cfb781d2eaf713cc38d07f12a
P2860
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.