Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.S82L
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BCS1L

NM_001079866.2:p.S82L

Associated Papers

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Guo W et al.

Nephrology (carlton, Vic.), 2022

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S et al.

Molecular Genetics and Metabolism Reports, 2018

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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."