Varaico: Literature-Extracted Genetic Variants

Gene:NXN
Variant:p.E412del1
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NXN

NM_022463.5:p.E412del1

Associated Papers

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Brinkmeier ML et al.

Human Molecular Genetics, 2025

40044116 (PubMed )
Supplement: brinkmeier_nxn_pituitary_supplemental_ddaf032.pdf

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Brinkmeier ML et al.

Biorxiv : the Preprint Server for Biology, 2025

39975280 (PubMed )
Supplement: media-1.pdf

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Zhang C et al.

Hgg Advances, 2022

35047859 (PubMed )
Supplement: mmc1.pdf

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.

White JJ et al.

American Journal of Human Genetics, 2018

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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."