Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.F390Y
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FKTN

NM_001079802.2:p.F390Y

Associated Papers

Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.

Matsumoto H et al.

Neuromuscular Disorders : Nmd, 2005

Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin.

Kobayashi K et al.

Febs Letters, 2001

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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."