Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.E310del1
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FKRP

NM_024301.5:p.E310del1

Associated Papers

Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.

Brown SC et al.

Journal of Neuropathology and Experimental Neurology, 2020

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy.

Nickolls AR et al.

Disease Models & Mechanisms, 2018

Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

Blaeser A et al.

Human Genetics, 2013

[Recent Advances in α-dystroglycanopathy].

Kuga A et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2011

Limb girdle muscular dystrophies: update on genetic diagnosis and therapeutic approaches.

Nigro V et al.

Current Opinion in Neurology, 2011

Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Chan YM et al.

Human Molecular Genetics, 2010

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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."