Varaico: Literature-Extracted Genetic Variants

Gene:NAPB
Variant:p.S160*
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NAPB

NM_022080.3:p.S160*

Associated Papers

NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.

Mignon-Ravix C et al.

Epilepsia, 2023

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Spoto G et al.

Frontiers in Neurology, 2022

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy.

Conroy J et al.

Clinical Genetics, 2016

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Oliver KL et al.

Neurology. Genetics, 2016

27066588 (PubMed )
Supplement: supp_2.1.e51_table_e-2.xlsx › table_e-2
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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."