Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.V338L
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FKRP

NM_024301.5:p.V338L

Associated Papers

Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.

Rahmuni Y et al.

Molecular Genetics & Genomic Medicine, 2026

Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.

Gaouzi Z et al.

Plos One, 2025

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.

Alfares A et al.

Bmc Medical Genomics, 2020

32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

Monies D et al.

Human Genomics, 2016

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy.

Boyden SE et al.

Neurogenetics, 2010

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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."