Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1068W
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FBN1

NM_000138.5:p.C1068W

Associated Papers

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene.

Motonaga T et al.

International Heart Journal, 2022

Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.

Stheneur C et al.

Pediatric Research, 2011

Primary trabeculodysgenesis in association with neonatal Marfan syndrome.

Whitelaw CM et al.

American Journal of Medical Genetics. Part A, 2004

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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."