Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.P750delFs
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JAG1

NM_000214.3:p.P750delFs

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

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.

Jurkiewicz D et al.

Journal of Applied Genetics, 2014

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