Varaico: Literature-Extracted Genetic Variants

Gene:KCNH8
Variant:p.M4I
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KCNH8

NM_144633.3:p.M4I

Associated Papers

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.

Niihori T et al.

Journal of Human Genetics, 2011

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

Aoki Y et al.

Human Mutation, 2008

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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."