Varaico: Literature-Extracted Genetic Variants

Gene:UQCC1
Variant:p.R51Q
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UQCC1

NM_018244.5:p.R51Q

Associated Papers

Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.

Bjornsdottir G et al.

Nature Communications, 2022

35110524 (PubMed )
Supplement: 41467_2022_28167_MOESM3_ESM.xlsx › SupData_5__IDD_coding

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM11_ESM.xlsx › Supplementary_Data_8

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Justice AE et al.

Nature Genetics, 2019

Regional fat depot masses are influenced by protein-coding gene variants.

Neville MJ et al.

Plos One, 2019

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-9.pdf
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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."