Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.M969T
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JAG1

NM_000214.3:p.M969T

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

Genetic insights into non-syndromic Tetralogy of Fallot.

Althali NJ et al.

Frontiers in Physiology, 2022

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

Wang MJ et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021

Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation.

Qian Y et al.

Journal of Translational Medicine, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."