Varaico: Literature-Extracted Genetic Variants

Gene:MME
Variant:p.R23Q
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MME

NM_007289.4:p.R23Q

Associated Papers

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Senderek J et al.

Neurology, 2020

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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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."