Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.Y399D
Back to variants list

BCS1L

NM_001079866.2:p.Y399D

Associated Papers

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

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

BCS1L mutations produce Fanconi syndrome with developmental disability.

Kanako KI et al.

Journal of Human Genetics, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."