Varaico: Literature-Extracted Genetic Variants

Gene:PDGFA
Variant:p.R2T
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PDGFA

NM_033023.5:p.R2T

Associated Papers

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Simpson MA et al.

American Journal of Human Genetics, 2007

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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."