Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.R130insFs
Back to variants list

JAG1

NM_000214.3:p.R130insFs

Associated Papers

Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.

Sharma P et al.

Cell Biology International, 2025

Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant.

Stanberry I et al.

Stem Cell Research, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."