Varaico: Literature-Extracted Genetic Variants

Gene:STAT5A
Variant:p.R152*
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STAT5A

NM_001288718.2:p.R152*

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

STAT5b: A master regulator of key biological pathways.

Smith MR et al.

Frontiers in Immunology, 2022

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

Bezrodnik L et al.

Journal of Clinical Immunology, 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

STAT5b deficiency: lessons from STAT5b gene mutations.

Hwa V et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic defects of the growth-hormone-IGF axis associated with growth hormone insensitivity.

Woods K

Endocrine Development, 2007

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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."