Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.P274fs
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PEX6

NM_000287.4:p.P274fs

Associated Papers

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.

Hoytema van Konijnenburg EMM et al.

Molecular Genetics and Metabolism Reports, 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."