Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.L239P
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MAFB

NM_005461.5:p.L239P

Associated Papers

Exploring Large MAF Transcription Factors: Functions, Pathology, and Mouse Models with Point Mutations.

Fujino M et al.

Genes, 2023

Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.

Pascolini G et al.

Clinical Genetics, 2022

Phenotypic analysis of mice carrying human-type MAFB p.Leu239Pro mutation.

Kanai M et al.

Biochemical and Biophysical Research Communications, 2020

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."