Varaico: Literature-Extracted Genetic Variants

Gene:PEX3
Variant:p.R54Q
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PEX3

NM_003630.3:p.R54Q

Associated Papers

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Broomfield A et al.

Jimd Reports, 2018

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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."