Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.L276_V277ins1
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FKRP

NM_024301.5:p.L276_V277ins1

Associated Papers

The first report of two homozygous sequence variants in FKRP and SELENON genes associated with syndromic congenital muscular dystrophy in Iran: Further expansion of the clinical phenotypes.

Mohamadian M et al.

The Journal of Gene Medicine, 2020

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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."