Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.T58R
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MAFB

NM_005461.5:p.T58R

Associated Papers

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.

Li JY et al.

American Journal of Medical Genetics. Part A, 2024

Multicentric Carpotarsal Osteolysis: a Contemporary Perspective on the Unique Skeletal Phenotype.

Ma NS et al.

Current Osteoporosis Reports, 2023

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review.

Drovandi S et al.

Journal of Clinical Medicine, 2022

35956038 (PubMed )
Supplement: jcm-11-04423-s001.zip › jcm-1819398-supplementary.pdf

Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing.

Li J et al.

European Journal of Medical Genetics, 2020

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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."