Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.F287fs
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FKRP

NM_024301.5:p.F287fs

Associated Papers

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies.

Fu X et al.

Journal of Human Genetics, 2016

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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."