Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.P269S
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JAG1

NM_000214.3:p.P269S

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Suppl_Table_6_FINAL.pdf

Jag1 represses Notch activation in lateral supporting cells and inhibits an outer hair cell fate in the medial cochlea.

de Haan S et al.

Development (cambridge, England), 2024

39373109 (PubMed )
Supplement: develop-151-202949-s1.pdf

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

Le Caignec C et al.

American Journal of Human Genetics, 2002

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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."