Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L353*
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FKTN

NM_001079802.2:p.L353*

Associated Papers

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U et al.

Neuromuscular Disorders : Nmd, 2011

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

Cotarelo RP et al.

Clinical Genetics, 2008

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

Matsumoto H et al.

Neuromuscular Disorders : Nmd, 2005

A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.

de Bernabé DB et al.

Journal of Medical Genetics, 2003

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."