Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P227insFs
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GJB1

NM_000166.6:p.P227insFs

Associated Papers

Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X.

Groh J et al.

Brain : a Journal of Neurology, 2012

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

Senderek J et al.

Journal of the Neurological Sciences, 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."