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Article

Activating mutations of STAT3: Impact on human growth.

Molecular and cellular endocrinology - 1 Dec 2020

Gutiérrez Mariana

Abstract excerpt

The signal transducer and activator of transcription (STAT) 3 is the most ubiquitous member of the STAT family and fulfills fundamental functions in immune and non-immune cells. Mutations in the STAT3 gene lead to different human diseases. Germline STAT3 activating or gain-of-function (GOF) mutations result in early-onset multiorgan autoimmunity, lymphoproliferation, recurrent infections and short stature. Since...

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Source

Identifiers

PMID: 32818584
DOI: 10.1016/j.mce.2020.110979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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