Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.M1K
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INS

NM_000207.3:p.M1K

Associated Papers

Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

Higuchi Y et al.

Annals of Neurology, 2016

Phenotypic consequences of branch point substitutions.

Královicová J et al.

Human Mutation, 2006

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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."