Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.Q708fs
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JAG1

NM_000214.3:p.Q708fs

Associated Papers

Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.

Qiao F et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2021

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Jurkiewicz D et al.

Journal of Applied Genetics, 2014

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

Lin HC et al.

American Journal of Medical Genetics. Part A, 2012

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Jurkiewicz D et al.

Human Mutation, 2005

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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."