Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.E1015*
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PEX1

NM_000466.3:p.E1015*

Associated Papers

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

Association Between Expanded Genomic Sequencing Combined With Hearing Screening and Detection of Hearing Loss Among Newborns in a Neonatal Intensive Care Unit.

Zhu Y et al.

Jama Network Open, 2022

35816303 (PubMed )
Supplement: jamanetwopen-e2220986-s001.pdf
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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."