Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.E45_G49ins1
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PEX6

NM_000287.4:p.E45_G49ins1

Associated Papers

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

Daich Varela M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."