Varaico: Literature-Extracted Genetic Variants

Gene:RTTN
Variant:p.I1079V
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RTTN

NM_173630.4:p.I1079V

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."