Varaico: Literature-Extracted Genetic Variants

Gene:JAK2
Variant:p.Q397_S398insFs
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JAK2

NM_004972.4:p.Q397_S398insFs

Associated Papers

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

Current issues on molecular diagnosis of GH signaling defects.

Feigerlova E et al.

Endocrine Development, 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

Defects in growth hormone receptor signaling.

Rosenfeld RG et al.

Trends in Endocrinology and Metabolism: Tem, 0

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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."