Varaico: Literature-Extracted Genetic Variants

Gene:FBN2
Variant:p.M2200V
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FBN2

NM_001999.4:p.M2200V

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

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

McCreary D et al.

Jama Network Open, 2019

31664448 (PubMed )
Supplement: jamanetwopen-2-e1914274-s001.pdf
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