Varaico: Literature-Extracted Genetic Variants

Gene:OR51B6
Variant:p.L172F
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OR51B6

NM_001004750.1:p.L172F

Associated Papers

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.

Cyrus C et al.

Archives of Medical Science : Ams, 2021

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

Lazo PA et al.

International Journal of Molecular Sciences, 2020

32585800 (PubMed )
Supplement: ijms-21-04447-s001.pdf

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00012-Table_S15.xlsx › Sheet1

Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Thareja G et al.

Bmc Genomics, 2015

Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.

Akinsheye I et al.

American Journal of Hematology, 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."