Varaico: Literature-Extracted Genetic Variants

Gene:CD180
Variant:p.P578L
Back to variants list

CD180

NM_005582.3:p.P578L

Associated Papers

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Bertoli-Avella A et al.

Journal of Medical Genetics, 2022

34952832 (PubMed )
Supplement: jmedgenet-2021-108150supp002.pdf

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ et al.

Science Translational Medicine, 2012

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."