Varaico: Literature-Extracted Genetic Variants

Gene:CCHCR1
Variant:p.E41*
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CCHCR1

NM_001105564.2:p.E41*

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.

Clark JSC et al.

Scientific Reports, 2023

37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease.

Horowitz JE et al.

Medrxiv : the Preprint Server for Health Sciences, 2021

33619501 (PubMed )
Supplement: NIHPP2020.12.14.20248176V3-supplement-1.pdf

Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

Hilbers FS et al.

International Journal of Cancer, 2020

Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss.

Oka A et al.

Ebiomedicine, 2020

32580135 (PubMed )
Supplement: mmc1.pdf

Metabolites downstream of predicted loss-of-function variants inform relationship to disease.

Li M et al.

Molecular Genetics and Metabolism, 2019

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Emdin CA et al.

Nature Communications, 2018

29691411 (PubMed )
Supplement: 41467_2018_3911_MOESM1_ESM.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."