Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.C857delFs
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PXDN

NM_012293.3:p.C857delFs

Associated Papers

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

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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."