Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

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Title
Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology
Authors
Keywords
Tauopathy, Seizures, Whole-exome sequencing, Synaptojanin
Journal
NEUROBIOLOGY OF AGING
Volume 36, Issue 2, Pages 1222.e1-1222.e5
Publisher
Elsevier BV
Online
2014-09-07
DOI
10.1016/j.neurobiolaging.2014.09.005

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