Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L284L
Back to variants list

FKRP

NM_024301.5:p.L284L

Associated Papers

Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.

Amaro A et al.

Brain : a Journal of Neurology, 2025

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

Stehlíková K et al.

Bmc Neurology, 2014

25135358 (PubMed )
Supplement: s12883-014-0154-7-S2.docx

The limb-girdle muscular dystrophies.

Wicklund MP et al.

Neurologic Clinics, 2014

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."