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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FKRP

Variant:p.R275R

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FKRP

NM_024301.5:p.R275R

hg38:chr19:46756275 C>A

Associated Papers

Progress and prospects of gene therapy clinical trials for the muscular dystrophies.

Bengtsson NE et al.

Human Molecular Genetics, 2016

26450518 (PubMed )

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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."