Varaico: Literature-Extracted Genetic Variants

Gene:ELN
Variant:p.G711D
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ELN

NM_000501.4:p.G711D

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Phenotypic findings associated with variation in elastin.

Justice A et al.

Hgg Advances, 2025

39604264 (PubMed )
Supplement: mmc1.pdf

Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.

Gordon DM et al.

Plos Genetics, 2022

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Larrivée-Vanier S et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

Revisiting the Population Genetics of Human Height.

Rotwein P

Journal of the Endocrine Society, 2020

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › LAN6
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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."