Varaico: Literature-Extracted Genetic Variants

Gene:UQCRC1
Variant:p.R269H
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UQCRC1

NM_003365.3:p.R269H

Associated Papers

Protein-truncating variants in UQCRC1 are associated with Parkinson's disease: evidence from half-million people.

Jing X et al.

Npj Parkinson's Disease, 2025

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer.

Zekavat SM et al.

Medrxiv : the Preprint Server for Health Sciences, 2020

33236019 (PubMed )
Supplement: media-2.xlsx › S.Data3
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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."