Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.K632N
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STAT5B

NM_012448.4:p.K632N

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

STAT5B SH2 variants disrupt mammary enhancers and the stability of genetic programs during pregnancy.

Lee HK et al.

Biorxiv : the Preprint Server for Biology, 2024

An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development.

Landi E et al.

Human Molecular Genetics, 2023

Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Hwa V

Molecular and Cellular Endocrinology, 2021

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Ramírez L et al.

Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2020

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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."