Varaico: Literature-Extracted Genetic Variants

Gene:ISG20
Variant:p.I142_Q143delFs
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ISG20

NM_002201.6:p.I142_Q143delFs

Associated Papers

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

Hwa V

Molecular and Cellular Endocrinology, 2021

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

Storr HL et al.

Endocrine Reviews, 2019

[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].

Scalco RC et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2013

The STAT5b Pathway Defect and Autoimmunity.

Kanai T et al.

Frontiers in Immunology, 2012

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."