Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.E167delFs
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NT5C3A

NM_001002010.5:p.E167delFs

Associated Papers

The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

Meggouh F et al.

Journal of Medical Genetics, 1998

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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."