Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1B
Variant:p.R62H
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ATP5F1B

NM_001686.4:p.R62H

Associated Papers

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

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."