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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX1

Variant:p.F1042L

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PEX1

NM_000466.3:p.F1042L

hg38:chr7:92493036 A>G

Associated Papers

A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.

Lu P et al.

Translational Pediatrics, 2021

33708531 (PubMed )

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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."