Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.R744P
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JAG1

NM_000214.3:p.R744P

Associated Papers

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools.

Keefer-Jacques E et al.

Hgg Advances, 2024

39244638 (PubMed )
Supplement: mmc1.pdf
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