Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.R744delFs
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JAG1

NM_000214.3:p.R744delFs

Associated Papers

Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations.

Chen L et al.

Translational Pediatrics, 2024

39823011 (PubMed )
Supplement: tp-13-12-2144-supplementary.pdf

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
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