Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.V1011M
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PEX1

NM_000466.3:p.V1011M

Associated Papers

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Malmgren H et al.

Frontiers in Genetics, 2025

40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › SK-N-DZ
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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."