Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.R54Q
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FKRP

NM_024301.5:p.R54Q

Associated Papers

[Analysis of clinical features and genetic variants in three Chinese pedigrees affected with Limb girdle muscular dystrophy type 2I].

Wang G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients.

Song D et al.

Clinical Genetics, 2021

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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."