Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L153P
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FKTN

NM_001079802.2:p.L153P

Associated Papers

Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.

Ceyhan-Birsoy O et al.

Journal of Neuromuscular Diseases, 0

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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."