Varaico: Literature-Extracted Genetic Variants

Gene:HRC
Variant:p.G611Splc
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HRC

NM_002152.3:p.G611Splc

Associated Papers

A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes.

Aguirre LA et al.

Neuromuscular Disorders : Nmd, 2008

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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."