Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.V147L
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PAX1

NM_001257096.2:p.V147L

Associated Papers

PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.

Miao D et al.

Cell Communication and Signaling : Ccs, 2024

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.

Elbagoury NM et al.

Journal of Molecular Neuroscience : Mn, 2023

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.

Sherlaw-Sturrock C et al.

European Journal of Medical Genetics, 2022

An overview of PAX1: Expression, function and regulation in development and diseases.

Wu W et al.

Frontiers in Cell and Developmental Biology, 2022

PAX1 is essential for development and function of the human thymus.

Yamazaki Y et al.

Science Immunology, 2020

Exome scale map of genetic alterations promoting metastasis in colorectal cancer.

Goryca K et al.

Bmc Genetics, 2018

30231850 (PubMed )
Supplement: 12863_2018_673_MOESM8_ESM.xlsx › df
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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."