Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.S277N
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PRPF31

NM_015629.4:p.S277N

Associated Papers

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

de Lonlay P et al.

Nature Genetics, 2001

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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."