Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.G1166R
Back to variants list

PXDN

NM_012293.3:p.G1166R

Associated Papers

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Kumar A et al.

Plos One, 2024

38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Zhu AY et al.

Ophthalmic Genetics, 2021

Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.

Zazo-Seco C et al.

Journal of Human Genetics, 2020

Whole exome sequencing: Uncovering causal genetic variants for ocular diseases.

Gupta S et al.

Experimental Eye Research, 2017

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

Micheal S et al.

Plos One, 2016

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."