Varaico: Literature-Extracted Genetic Variants

Gene:ABCG5
Variant:p.R419C
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ABCG5

NM_022436.3:p.R419C

Associated Papers

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Okada T et al.

Journal of Atherosclerosis and Thrombosis, 2026

Sitosterolemia: Four Cases of an Uncommon Cause of Hemolytic Anemia (Mediterranean Stomatocytosis with Macrothrombocytopenia).

Desai SR et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021

Frequent alterations in cytoskeleton remodelling genes in primary and metastatic lung adenocarcinomas.

Wu K et al.

Nature Communications, 2015

26647728 (PubMed )
Supplement: ncomms10131-s8.xlsx › Sup_Data_7
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