Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP1
Variant:p.G115R
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EFEMP1

NM_001039348.3:p.G115R

Associated Papers

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5

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
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