Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.G139R
Back to variants list

FBN1

NM_000138.5:p.G139R

Associated Papers

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.

Gezdirici A et al.

Journal of Human Genetics, 2021

Hereditary thoracic aortic disease associated with cysteine substitution c.937T > G p.(Cys313Gly) in FBN1.

Overwater E et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."