Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.A67P
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ETV6

NM_001987.5:p.A67P

Associated Papers

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.

Kovach MJ et al.

American Journal of Human Genetics, 1999

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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."