Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C936Y
Back to variants list

JAG1

NM_000214.3:p.C936Y

Associated Papers

A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.

Khayat AA et al.

Journal of Pediatric Gastroenterology and Nutrition, 2019

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Guegan K et al.

Clinical Genetics, 2012

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."