Varaico: Literature-Extracted Genetic Variants

Gene:EMD
Variant:p.S8insFs
Back to variants list

EMD

NM_000117.3:p.S8insFs

Associated Papers

Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

Youil R et al.

Human Mutation, 2000

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."