Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E440*
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FKRP

NM_024301.5:p.E440*

Associated Papers

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.

Torelli S et al.

Neuromuscular Disorders : Nmd, 2005

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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."