Varaico: Literature-Extracted Genetic Variants

Gene:MFGE8
Variant:p.L76M
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MFGE8

NM_005928.4:p.L76M

Associated Papers

Association of the single-nucleotide polymorphism in the MFG-E8 gene with coronary heart disease in Chinese Han population.

Wang D et al.

Bmc Cardiovascular Disorders, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Narumi S et al.

Nature Genetics, 2024

38714868 (PubMed )
Supplement: 41588_2024_1735_MOESM3_ESM.xlsx › Supplementary_Table_1

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Schnappauf O et al.

Pediatric Rheumatology Online Journal, 2021

33892719 (PubMed )
Supplement: 12969_2021_536_MOESM1_ESM.docx

Brief Report: Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease.

Demirkaya E et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info

Genetic polymorphism in milk fat globule-EGF factor 8 (MFG-E8) is associated with systemic lupus erythematosus in human.

Hu CY et al.

Lupus, 2009

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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."