Varaico: Literature-Extracted Genetic Variants

Gene:EEF2KMT
Variant:p.S125I
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EEF2KMT

NM_201400.4:p.S125I

Associated Papers

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C et al.

Bmc Neurology, 2013

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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."