Varaico: Literature-Extracted Genetic Variants

Gene:FBLN5
Variant:p.R71G
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FBLN5

NM_006329.4:p.R71G

Associated Papers

Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.

Safka Brozkova D et al.

European Journal of 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."