Varaico: Literature-Extracted Genetic Variants

Gene:ABCG8
Variant:p.N409S
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ABCG8

NM_022437.3:p.N409S

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx

APOBEC SBS13 Mutational Signature-A Novel Predictor of Radioactive Iodine Refractory Papillary Thyroid Carcinoma.

Siraj S et al.

Cancers, 2022

35326735 (PubMed )
Supplement: cancers-14-01584-s001.zip › SupplementaryTables.xlsx › Supplementary_Table_S3

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

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene.

Tada H et al.

Lipids in Health and Disease, 2020

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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."