Varaico: Literature-Extracted Genetic Variants

Gene:UQCR10
Variant:p.I47V
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UQCR10

NM_013387.4:p.I47V

Associated Papers

Disruption of mitochondrial energy metabolism is a putative pathogenesis of Diamond-Blackfan anemia.

Xiao R et al.

Iscience, 2024

38414864 (PubMed )
Supplement: mmc1.pdf

Mitogroup: continent-specific clusters of mitochondrial OXPHOS complexes based on nuclear non-synonymous polymorphisms.

Pierron D et al.

Mitochondrion, 2012

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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."