Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.W288*
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JAG1

NM_000214.3:p.W288*

Associated Papers

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

Menguy L et al.

Kidney International, 2026

JAG1 of all trades, master of CKD? The role of JAG1 in autosomal dominant tubulointerstitial kidney disease.

Wiesener MS et al.

Kidney International, 2026

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Stephens SB et al.

Journal of the American Heart Association, 2024

38591341 (PubMed )
Supplement: JAH3-13-e034048-s001.pdf

Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Huang Z et al.

Jama Network Open, 2023

37014641 (PubMed )
Supplement: jamanetwopen-e236537-s001.pdf
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