Varaico: Literature-Extracted Genetic Variants

Gene:FBN1
Variant:p.C1182R
Back to variants list

FBN1

NM_000138.5:p.C1182R

Associated Papers

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

Chen Z et al.

The British Journal of Ophthalmology, 2022

34281902 (PubMed )
Supplement: bjophthalmol-2021-319084supp003.pdf
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."