Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.T598delFs
Back to variants list

PEX1

NM_000466.3:p.T598delFs

Associated Papers

Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.

Bilamge A et al.

Journal of Child Neurology, 2025

Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.

Chau JFT et al.

Npj Genomic Medicine, 2022

35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV

Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.

Yoshioka H et al.

International Journal of Molecular Sciences, 2021

33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-1_Final_021921.xlsx › Table_S3.1

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE et al.

European Journal of Human Genetics : Ejhg, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."