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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FKTN

Variant:p.R216Splc

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FKTN

NM_001079802.2:p.R216Splc

hg38:chr9:105606461 A>T

Associated Papers

Branchpoints as potential targets of exon-skipping therapies for genetic disorders.

Ohara H et al.

Molecular Therapy. Nucleic Acids, 2023

37547287 (PubMed )

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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."