Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.W988*
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FBN1

NM_000138.5:p.W988*

Associated Papers

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Zhou Y et al.

Molecular Medicine Reports, 2021

33576469 (PubMed )
Supplement: Supplementary_Data.pdf

Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.

Zhurayev R et al.

Genetics Research, 2016

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

Yang H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

[Clinical and Genetic Characteristics of Russian Marfan Patients].

Semyachkina AN et al.

Genetika, 2015

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Comeglio P et al.

Human Mutation, 2007

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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."