Varaico: Literature-Extracted Genetic Variants

Gene:FANCD2
Variant:p.R589Splc
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FANCD2

NM_001018115.3:p.R589Splc

Associated Papers

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Scocchia A et al.

Orphanet Journal of Rare Diseases, 2021

34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants

Bone Marrow Mesenchymal Stem Cells Carrying FANCD2 Mutation Differ from the Other Fanconi Anemia Complementation Groups in Terms of TGF-β1 Production.

Cagnan I et al.

Stem Cell Reviews and Reports, 2018

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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."