Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.I183N
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JAG1

NM_000214.3:p.I183N

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

Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

Yan J et al.

Bmc Pediatrics, 2024

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