Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.R387Splc
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VRK1

NM_003384.3:p.R387Splc

Associated Papers

Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.

Wu R et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019

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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."