Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.S508del1
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HMGCR

NM_000859.3:p.S508del1

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

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Estévez-Arias B et al.

European Journal of Human Genetics : Ejhg, 2025

Effects of HMGCR deficiency on skeletal muscle development.

Gunasekaran M et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."