Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.S69del1
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FKRP

NM_024301.5:p.S69del1

Associated Papers

Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.

Mao B et al.

Bmc Musculoskeletal Disorders, 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.

Lace B et al.

Neurology. Genetics, 2022

Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.

Xie Z et al.

Orphanet Journal of Rare Diseases, 2019

31747956 (PubMed )
Supplement: 13023_2019_1242_MOESM2_ESM.docx

Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.

Xie Z et al.

Biomed Research International, 2018

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

Inashkina I et al.

Bmc Musculoskeletal Disorders, 2016

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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."