Varaico: Literature-Extracted Genetic Variants

Gene:EMILIN1
Variant:p.E903K
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EMILIN1

NM_007046.4:p.E903K

Associated Papers

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

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Roper N et al.

Cell Reports, 2019

30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA003_P

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
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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."