Varaico: Literature-Extracted Genetic Variants

Gene:PLS3
Variant:p.W499C
Back to variants list

PLS3

NM_005032.7:p.W499C

Associated Papers

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.

Petit F et al.

American Journal of Human Genetics, 2023

An atomic model of actin filaments cross-linked by fimbrin and its implications for bundle assembly and function.

Volkmann N et al.

The Journal of Cell Biology, 2001

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."