Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.W107Splc
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BCS1L

NM_001079866.2:p.W107Splc

Associated Papers

Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

Fernández-Vizarra E et al.

Frontiers in Genetics, 2015

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

Hinson JT et al.

The New England Journal of Medicine, 2007

[Complex III deficiency due to mutations in the cytochrome b gene].

Ishii A et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

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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."