Varaico: Literature-Extracted Genetic Variants

Gene:KNL1
Variant:p.D1390E
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KNL1

NM_144508.5:p.D1390E

Associated Papers

A novel missense variant in ACAA1 contributes to early-onset Alzheimer's disease, impairs lysosomal function, and facilitates amyloid-β pathology and cognitive decline.

Luo R et al.

Signal Transduction and Targeted Therapy, 2021

34465723 (PubMed )
Supplement: 41392_2021_748_MOESM1_ESM.docx

Molecular diagnostics of a single drug-resistant multiple myeloma case using targeted next-generation sequencing.

Ikeda H et al.

Oncotargets and Therapy, 2015

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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."