Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.H268fs
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JAG1

NM_000214.3:p.H268fs

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

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

Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome.

Isa HM et al.

Advanced Biomedical Research, 2023

Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.

Micaglio E et al.

International Journal of Molecular Sciences, 2019

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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."