Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.E228K
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HMGCR

NM_000859.3:p.E228K

Associated Papers

The pharmacogenomic landscape of an Indigenous Australian population.

Samarasinghe SR et al.

Frontiers in Pharmacology, 2023

37284308 (PubMed )
Supplement: Table3.xlsx › Predicted_delet_16_variants

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Correia SP et al.

Human Mutation, 2021

Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.

Oommen D et al.

Frontiers in Genetics, 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."