Novel STAT3 variant causing infantile-onset autoimmune disease

Authors: Miao Pan, Justin Kurtz

Source: Frontiers in Medicine, Vol 10 (2023)

Subject Terms: STAT3, SH2, infantile-onset, autoimmune, sequencing, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2023.1251088/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/2f36b156aecc4c20b2c5cc4e1ec770f2

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Authors: Justin Kurtz, Joseph Americo Fernandes, Mahesh Mansukhani, William C. Copeland, Ali B. Naini

Source: Case Reports in Genetics, Vol 2021 (2021)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-6552

Access URL: https://doaj.org/article/530aba970bae4c4f8bde706d79e970eb