Varaico: Literature-Extracted Genetic Variants

Gene:STAT5A
Variant:p.R560delFs
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STAT5A

NM_001288718.2:p.R560delFs

Associated Papers

STAT5B restrains human B-cell differentiation to maintain humoral immune homeostasis.

Pelham SJ et al.

The Journal of Allergy and Clinical Immunology, 2022

Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.

Vargas-Hernández A et al.

The Journal of Allergy and Clinical Immunology, 2020

Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.

Storr HL et al.

Endocrine Reviews, 2019

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.

Jenks JA et al.

Clinical Immunology (orlando, Fla.), 2013

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

STAT5b deficiency: lessons from STAT5b gene mutations.

Hwa V et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 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."