Varaico: Literature-Extracted Genetic Variants

Gene:MAD2L1BP
Variant:p.E5K
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MAD2L1BP

NM_014628.3:p.E5K

Associated Papers

X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.

Kim Y et al.

Clinical Genetics, 2012

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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."