Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.A272S
Back to variants list

EGF

NM_001963.6:p.A272S

Associated Papers

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Gilbert MA et al.

American Journal of Human Genetics, 2024

39043182 (PubMed )
Supplement: mmc5.pdf
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."