Varaico: Literature-Extracted Genetic Variants

Gene:MATN1
Variant:p.K211*
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MATN1

NM_002379.3:p.K211*

Associated Papers

Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.

Martinez J et al.

The Journal of Biological Chemistry, 2012

Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.

Penner J et al.

Biochemistry, 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."