Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.L239V
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MAFB

NM_005461.5:p.L239V

Associated Papers

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome.

Sato Y et al.

Kidney International, 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."