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Get the free A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild...

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Case Report 01 February 2024 DOI 10.3389/fimmu.2024.1329610 TYPEPUBLISHEDOPEN ACCESS EDITED BYRamsay Fuleihan, Columbia University, United States REVIEWED BYSaul Oswaldo Lugo Reyes, National Institute
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A unique stk4 mutation refers to a specific genetic alteration in the STK4 gene that is distinctive and not commonly found in the general population. This mutation can impact various biological processes, including cell signaling and regulation.
Typically, researchers, geneticists, or medical professionals who discover or identify a unique stk4 mutation in a patient or study sample are required to file this information with relevant health authorities or genetic databases.
To fill out a unique stk4 mutation form, one should include details about the mutation, such as its specific location in the STK4 gene, the nature of the mutation (e.g., deletion, insertion), and any clinical implications it may have. Documentation of supporting evidence and related case studies should also be provided.
The purpose of documenting a unique stk4 mutation is to advance our understanding of genetic variations and their potential effects on health, to facilitate research, and to contribute to databases that assist in diagnosing and treating genetic disorders.
Information that must be reported includes the type of mutation, its location within the STK4 gene, associated phenotypic information, family history of the mutation, and any clinical or research findings related to the mutation.
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