Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.L438insFs
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PEX6

NM_000287.4:p.L438insFs

Associated Papers

Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.

Hu J et al.

Biomedicines, 2026

41595643 (PubMed )
Supplement: biomedicines-14-00107-s001.zip › Supplementary_File_S1.xlsx › Data_Extraction

Malformations of cortical development: Fetal imaging and genetics.

Wang LL et al.

Molecular Genetics & Genomic Medicine, 2024

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.

Wang X et al.

Scientific Reports, 2016

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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."