Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.P63Q
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MAFB

NM_005461.5:p.P63Q

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

A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.

Gupta N et al.

European Journal of Medical Genetics, 2023

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

Ma NS et al.

Current Osteoporosis Reports, 2023

Multicentric Carpo-Tarsal Osteolysis Syndrome Mimicking Juvenile Idiopathic Arthritis: Two Case Reports and Review of the Literature.

Wu J et al.

Frontiers in Pediatrics, 2021

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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."