Varaico: Literature-Extracted Genetic Variants

Gene:SELE
Variant:p.L575F
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SELE

NM_000450.2:p.L575F

Associated Papers

Association of cell adhesion molecules levels & single nucleotide polymorphisms with vaso-occlusive crisis in sickle cell disease: A cross sectional study.

Gupta P et al.

The Indian Journal of Medical Research, 2025

Genetic findings of children with congenital heart diseases using chromosomal microarray and trio-based whole exome sequencing.

Guo R et al.

Scientific Reports, 2025

40715143 (PubMed )
Supplement: 41598_2025_6977_MOESM2_ESM.xlsx › Sheet1

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

The rs1805193, rs5361, and rs5355 single nucleotide polymorphisms in the E-selectin gene (SEL-E) are associated with subclinical atherosclerosis: The Genetics of Atherosclerotic Disease (GEA) Mexican study.

Vargas-Alarcon G et al.

Immunobiology, 2019

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-00010-Table_S13.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0A9-01A.domain

Association of E-selectin gene polymorphism and serum PAPP-A with carotid atherosclerosis in end-stage renal disease.

Issac MS et al.

Molecular Diagnosis & Therapy, 2014

Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels.

El Shamieh S et al.

Plos One, 2012

Functional impact of IgA nephropathy-associated selectin gene haplotype on leukocyte-endothelial interaction.

Takei T et al.

Immunogenetics, 2006

Understanding mutations and protein stability through tripeptides.

Anishetty S et al.

Febs Letters, 2006

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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."