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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TECPR2

Variant:p.L440R

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TECPR2

NM_014844.5:p.L440R

hg38:chr14:102432030 T>G

Associated Papers

Spatial proteomics reveals secretory pathway disturbances caused by neuropathy-associated TECPR2.

Nalbach K et al.

Nature Communications, 2023

36797266 (PubMed )

Supplement: 41467_2023_36553_MOESM1_ESM.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."