Varaico: Literature-Extracted Genetic Variants

Gene:PXDN
Variant:p.H995R
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PXDN

NM_012293.3:p.H995R

Associated Papers

Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis.

Chou WS et al.

Taiwanese Journal of Obstetrics & Gynecology, 2022

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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."