Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.Q942*
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JAG1

NM_000214.3:p.Q942*

Associated Papers

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.

Feng X et al.

Scientific Reports, 2024

38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1

Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course.

Chiang CM et al.

Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2022

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.

Röpke A et al.

Human Mutation, 2003

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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."