Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R275C
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FKRP

NM_024301.5:p.R275C

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

Successful perinatal management in pregnant women with R9 limb-girdle muscular dystrophy and left ventricular ejection fraction of 27%: a case report.

Xie W et al.

Frontiers in Medicine, 2025

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Megarbane A et al.

Journal of Neuromuscular Diseases, 2022

Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.

Liang WC et al.

Orphanet Journal of Rare Diseases, 2020

Clinical and genetic characteristics of female dystrophinopathy carriers.

Zhong J et al.

Molecular Medicine Reports, 2019

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P et al.

Molecular Genetics & Genomic Medicine, 2018

Asian patients with limb girdle muscular dystrophy 2I (LGMD2I).

Hong D et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011

A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.

Lin YC et al.

Brain & Development, 2007

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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."