Varaico: Literature-Extracted Genetic Variants

Gene:NAPB
Variant:p.M118_G119Splc
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NAPB

NM_001283018.2:p.M118_G119Splc

Associated Papers

Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB.

AbdelAleem A et al.

Neurogenetics, 2023

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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."