Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.P86Splc
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C2

NM_000063.6:p.P86Splc

Associated Papers

Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.

Takayanagi S et al.

Neuro-oncology, 2017

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

Müller JS et al.

Brain : a Journal of Neurology, 2007

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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."