Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.W255*
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FKRP

NM_024301.5:p.W255*

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM

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

Unnikrishnan G et al.

Journal of Neuromuscular Diseases, 2023

Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.

de Paula F et al.

European Journal of Human Genetics : Ejhg, 2003

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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."