Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.E1158_C1159delFs
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FBN1

NM_000138.5:p.E1158_C1159delFs

Associated Papers

A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.

Vatti L et al.

American Journal of Medical Genetics. Part A, 2017

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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."