Varaico: Literature-Extracted Genetic Variants

Gene:CKLF
Variant:p.M1R
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CKLF

NM_016951.4:p.M1R

Associated Papers

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

Herman GE et al.

Human Mutation, 2002

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

Hennermann JB et al.

Human Mutation, 2000

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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."