Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB1
Variant:p.H420P
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PFKFB1

NM_002625.4:p.H420P

Associated Papers

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

Saitsu H et al.

Scientific Reports, 2015

26477325 (PubMed )
Supplement: srep15199-s1.doc
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."