Varaico: Literature-Extracted Genetic Variants

Gene:PEX11B
Variant:p.R93G
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PEX11B

NM_003846.3:p.R93G

Associated Papers

Two siblings with PEX11B-related peroxisome biogenesis disorder.

Khoddam S et al.

European Journal of Medical Genetics, 2024

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Taylor RL et al.

Investigative Ophthalmology & Visual Science, 2017

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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."