Varaico: Literature-Extracted Genetic Variants

Gene:PAX1
Variant:p.P392fs
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PAX1

NM_001257096.2:p.P392fs

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

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

Wu W et al.

Frontiers in Cell and Developmental Biology, 2022

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.

Patil SJ et al.

American Journal of Medical Genetics. Part A, 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."