Varaico: Literature-Extracted Genetic Variants

Gene:SHKBP1
Variant:p.R176*
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SHKBP1

NM_138392.4:p.R176*

Associated Papers

Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.

Gomez VA et al.

Biorxiv : the Preprint Server for Biology, 2024

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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."