Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.V76F
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SORD

NM_003104.6:p.V76F

Associated Papers

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.

Gispert S et al.

Human Molecular Genetics, 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."