Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.R233H
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FBN1

NM_000138.5:p.R233H

Associated Papers

Gene panel for Mendelian strokes.

Fang F et al.

Stroke and Vascular Neurology, 2020

32341005 (PubMed )
Supplement: svn-2020-000352supp003.pdf

A novel pathogenic mutation in FBN2 associated with congenital contractural arachnodactyly for preimplantation genetic diagnosis.

Li J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2020

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Guo J et al.

Scientific Reports, 2015

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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."