Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.W217R
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FBN1

NM_000138.5:p.W217R

Associated Papers

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.

Han D et al.

Molecular Genetics & Genomic Medicine, 2024

38958168 (PubMed )
Supplement: MGG3-12-e2482-s006.xlsx › Supplementary_table_3

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].

Rong J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Novel FBN1 Heterozygous Mutations Identified in Chinese Families with Marfan Syndrome.

Yao X et al.

Annals of Clinical and Laboratory Science, 2019

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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."