Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.Q130del1
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INF2

NM_022489.4:p.Q130del1

Associated Papers

A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction.

Echaniz-Laguna A et al.

Journal of the Peripheral Nervous System : Jpns, 2019

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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."