Associated Papers
Tauopathy-associated PERK alleles are functional hypomorphs that increase neuronal vulnerability to ER stress.
Yuan SH et al.
Human Molecular Genetics, 2018
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.
Ozbek MN et al.
Pediatric Diabetes, 2010
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