Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E57_V63delFs
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FKRP

NM_024301.5:p.E57_V63delFs

Associated Papers

Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I.

Rasmussen M et al.

Acta Paediatrica (oslo, Norway : 1992), 2014

Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.

Stensland E et al.

Neuromuscular Disorders : Nmd, 2011

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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."