Varaico: Literature-Extracted Genetic Variants

Gene:TMX3
Variant:p.D108N
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TMX3

NM_019022.5:p.D108N

Associated Papers

Introducing Thioredoxin-Related Transmembrane Proteins: Emerging Roles of Human TMX and Clinical Implications.

Matsuo Y

Antioxidants & Redox Signaling, 2022

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Richardson R et al.

European Journal of Human Genetics : Ejhg, 2017

The human protein disulfide isomerase gene family.

Galligan JJ et al.

Human Genomics, 2012

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Chao R et al.

Plos One, 2010

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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."