Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.A1069D
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PXDN

NM_012293.3:p.A1069D

Associated Papers

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

Zhu AY et al.

Ophthalmic Genetics, 2021

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

Costain G et al.

Jama Network Open, 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."