Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.G435R
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EFEMP1

NM_001039348.3:p.G435R

Associated Papers

Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.

Zhou L et al.

Frontiers in Genetics, 2025

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

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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."