Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C251*
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JAG1

NM_000214.3:p.C251*

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

Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center.

Li D et al.

International Journal of General Medicine, 2023

Analysis of gene mutations in children with cholestasis of undefined etiology.

Matte U et al.

Journal of Pediatric Gastroenterology and Nutrition, 2010

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