Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C129S
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FBN1

NM_000138.5:p.C129S

Associated Papers

A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser.

Mohammad AN et al.

Journal of Pediatric Genetics, 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."