Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.C857fs
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PXDN

NM_012293.3:p.C857fs

Associated Papers

Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.

Basharat R et al.

Genes, 2023

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

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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."