Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.G192delFs
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ABCG5

NM_022436.3:p.G192delFs

Associated Papers

Expanded genetic testing in familial hypercholesterolemia-A single center's experience.

Brown EE et al.

American Journal of Preventive Cardiology, 2024

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Hereditary phytosterolaemia.

Harper K et al.

British Journal of Haematology, 2019

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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."