Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.F35L
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JAG1

NM_000214.3:p.F35L

Associated Papers

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.

Dueñas Rey A et al.

Genome Medicine, 2024

38184646 (PubMed )
Supplement: 13073_2023_1277_MOESM1_ESM.xlsx › Table_S11

An N-glycan on the C2 domain of JAGGED1 is important for Notch activation.

Meng Y et al.

Science Signaling, 2022

Two Variants in the NOTCH4 and HLA-C Genes Contribute to Familial Clustering of Psoriasis.

Cai M et al.

International Journal of Genomics, 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."