Varaico: Literature-Extracted Genetic Variants

Gene:STAT5A
Variant:p.F646S
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STAT5A

NM_001288718.2:p.F646S

Associated Papers

Disease-Associated Mutations of the STAT5B SH2 Domain Regulate Cytokine-Driven Enhancer Function and Mammary Development.

Lee HK et al.

Journal of Mammary Gland Biology and Neoplasia, 2025

Immune Monitoring of Patients With Primary Immune Regulation Disorders Unravels Higher Frequencies of Follicular T Cells With Different Profiles That Associate With Alterations in B Cell Subsets.

Caldirola MS et al.

Frontiers in Immunology, 2020

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.

Bezrodnik L et al.

Journal of Clinical Immunology, 2015

How Intrinsic Molecular Dynamics Control Intramolecular Communication in Signal Transducers and Activators of Transcription Factor STAT5.

Langenfeld F et al.

Plos One, 2015

Current issues on molecular diagnosis of GH signaling defects.

Feigerlova E et al.

Endocrine Development, 2013

Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.

David A et al.

Endocrine Reviews, 2011

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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."