Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

BACKGROUND: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier activating enzyme 1 (UBA1) in Xp11.3. Germline pathogenic vari...

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Detalles Bibliográficos
Autores principales: Wilke, Matheus V. M. B., Morava-Kozicz, Eva, Koster, Matthew J., Schmitz, Christopher T., Foster, Shannon Kaye, Patnaik, Mrinal, Warrington, Kenneth J., Klee, Eric W., Pinto e Vairo, Filippo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426024/
https://www.ncbi.nlm.nih.gov/pubmed/36038944
http://dx.doi.org/10.1186/s41927-022-00281-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426024/
https://www.ncbi.nlm.nih.gov/pubmed/36038944
http://dx.doi.org/10.1186/s41927-022-00281-z

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