Varaico: Literature-Extracted Genetic Variants

Gene:MAFB
Variant:p.P71A
Back to variants list

MAFB

NM_005461.5:p.P71A

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

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

34722426 (PubMed )
Supplement: Presentation_1.pdf

Three cases of multicentric carpotarsal osteolysis syndrome: a case series.

Park PG et al.

Bmc Medical Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."