Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.T314P
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FKRP

NM_024301.5:p.T314P

Associated Papers

Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants.

Henriques SF et al.

Human Mutation, 2019

Molecular heterogeneity in fetal forms of type II lissencephaly.

Bouchet C et al.

Human Mutation, 2007

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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."