Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.S2522G
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NOTCH1

NM_017617.5:p.S2522G

Associated Papers

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II.

van Hoolwerff M et al.

Science Advances, 2021

34739320 (PubMed )
Supplement: sciadv.abg8583_sm.pdf

Genetic and epigenetic profiling indicates the proximal tubule origin of renal cancers in end-stage renal disease.

Ishihara H et al.

Cancer Science, 2020

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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."