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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHM3

Variant:p.L288_K289insFs

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PLEKHM3

NM_001080475.3:p.L288_K289insFs

hg38:chr2:207977330 C>CT

Associated Papers

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

Claramunt R et al.

Journal of Medical Genetics, 2005

15805163 (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."