Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.D1070Splc
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FBN1

NM_000138.5:p.D1070Splc

Associated Papers

Double somatic mosaicism in Marfan syndrome.

Carrera IA et al.

American Journal of Medical Genetics. Part A, 2024

Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.

Arnaud P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."