Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB2
Variant:p.R478H
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PFKFB2

NM_006212.2:p.R478H

Associated Papers

Linking tuberous sclerosis complex, excessive mTOR signaling, and age-related neurodegeneration: a new association between TSC1 mutation and frontotemporal dementia.

Olney NT et al.

Acta Neuropathologica, 2017

28828560 (PubMed )
Supplement: 401_2017_1764_MOESM1_ESM.pdf
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