Varaico: Literature-Extracted Genetic Variants

Gene:PNLIP
Variant:p.P301L
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PNLIP

NM_000936.4:p.P301L

Associated Papers

Impairment of neuronal activity occurs at the early stages of the aggregation cascade of Aβ1-42 and mutant Tau.

Hirsch F et al.

Biorxiv : the Preprint Server for Biology, 2025

The use of CRISPR to generate a whole-gene humanized MAPT and the examination of P301L and G272V clinical variants, along with the creation of deletion null alleles of ptl-1, pgrn-1 and alfa-1 loci.

Lins J et al.

Micropublication Biology, 2022

Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia.

Neumann M et al.

Neurogenetics, 2005

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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."