Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.V92G
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PEX1

NM_000466.3:p.V92G

Associated Papers

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

27302843 (PubMed )
Supplement: ejhg201662x1.docx
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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."