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Q55001192-D23533D5-A647-4F85-ADC3-DBAFC8A49444
Q55001192-D23533D5-A647-4F85-ADC3-DBAFC8A49444
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55001192-D23533D5-A647-4F85-ADC3-DBAFC8A49444
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.
P2860
Q55001192-D23533D5-A647-4F85-ADC3-DBAFC8A49444
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55001192-D23533D5-A647-4F85-ADC3-DBAFC8A49444
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wasDerivedFrom
dc16faae90f443888e6a8aca016cdcdb65244a30
P2860
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.