Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.N117I
Back to variants list

ACTA1

NM_001100.4:p.N117I

Associated Papers

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Mc Glacken-Byrne AB et al.

Bmc Ophthalmology, 2020

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."