Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.Y398fs
Back to variants list

PXDN

NM_012293.3:p.Y398fs

Associated Papers

Three Novel Mutations of Microphthalmos Identified in Two Chinese Families.

Tang Y et al.

Phenomics (cham, Switzerland), 2022

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.

Micheal S et al.

Plos One, 2016

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Choi A et al.

European Journal of Human Genetics : Ejhg, 2015

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."