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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INF2

Variant:p.Q216_I222del7

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INF2

NM_022489.4:p.Q216_I222del7

hg38:chr14:104703431 CCCAGCTGCGGAACGAGTTTAT>C

Associated Papers

Phenotype-driven reanalysis reveals five novel pathogenic variants in 40 exome-negative families with Charcot-Marie-Tooth Disease.

Lin Z et al.

Journal of Neurology, 2024

37776383 (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."