Varaico: Literature-Extracted Genetic Variants

Gene:GMPPB
Variant:p.L338F
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GMPPB

NM_021971.4:p.L338F

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

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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."