Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.P11L
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EXOSC6

NM_058219.3:p.P11L

Associated Papers

Phosphorylation of Thr9 Affects the Folding Landscape of the N-Terminal Segment of Human AGT Enhancing Protein Aggregation of Disease-Causing Mutants.

Neira JL et al.

Molecules (basel, Switzerland), 2022

The lower limits for protein stability and foldability in primary hyperoxaluria type I.

Mesa-Torres N et al.

Biochimica Et Biophysica Acta, 2014

Evolutionary trace-based peptides identify a novel asymmetric interaction that mediates oligomerization in nuclear receptors.

Gu P et al.

The Journal of Biological Chemistry, 2005

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.

Coulter-Mackie MB et al.

Molecular Genetics and Metabolism, 0

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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."