Varaico: Literature-Extracted Genetic Variants

Gene:ABCA8
Variant:p.A387S
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ABCA8

NM_001288985.2:p.A387S

Associated Papers

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Hayashi T et al.

Human Molecular Genetics, 2023

36645181 (PubMed )
Supplement: supplementary_materials_r1_ddad008.zip › Supplementary_Materials_R1_ddad008.pdf
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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."