Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.A541T
Back to variants list

HMGCR

NM_000859.3:p.A541T

Associated Papers

HMGCR-related muscular dystrophy: a case of severe neonatal-onset form.

Upadia J et al.

Neuromuscular Disorders : Nmd, 2026

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

Gunasekaran M et al.

The Febs Journal, 2025

Effects of HMGCR deficiency on skeletal muscle development.

Gunasekaran M et al.

Biorxiv : the Preprint Server for Biology, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."