Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.P129_R130Splc
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JAG1

NM_000214.3:p.P129_R130Splc

Associated Papers

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM6_ESM.xlsx › Sheet1

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Scott HA et al.

Cold Spring Harbor Molecular Case Studies, 2020

32014858 (PubMed )
Supplement: supp_mcs.a004754_Supplemental_Material.pdf
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