Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.S239insFs
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JAG1

NM_000214.3:p.S239insFs

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

Moyamoya vascular pattern in Alagille syndrome.

Rocha R et al.

Pediatric Neurology, 2012

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