Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.A88T
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JAG1

NM_000214.3:p.A88T

Associated Papers

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.

Gilbert MA et al.

American Journal of Human Genetics, 2024

39043182 (PubMed )
Supplement: mmc4.xlsx › Sheet1

TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.

Torres-Fernández LA et al.

Frontiers in Cell and Developmental Biology, 2021

34055789 (PubMed )
Supplement: Data_Sheet_1.pdf
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