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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKD2L1

Variant:p.L12_Q13insAA

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PKD2L1

NM_016112.3:p.L12_Q13insAA

hg38:chr10:100330070 G>GNNNNNN

Associated Papers

Up-regulation of cholesterol synthesis pathways and limited neurodegeneration in a knock-in Sod1 mutant mouse model of ALS.

Dominov JA et al.

Biorxiv : the Preprint Server for Biology, 2023

37205335 (PubMed )

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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."