Varaico: Literature-Extracted Genetic Variants

Gene:STAT5B
Variant:p.Q368fs
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STAT5B

NM_012448.4:p.Q368fs

Associated Papers

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc16.xlsx › Sheet1

Establishment of novel cholangiocarcinoma cell lines with ARID1A deficiency and preclinical validation of synthetic lethality therapies.

Prasopporn S et al.

Scientific Reports, 2025

Systematic comprehension of genomics and mutational landscape of glioma: A goal towards advanced therapeutics.

Dakal TC et al.

Neuroscience, 2025

Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis.

Yamaguchi J et al.

Acta Neuropathologica Communications, 2024

39456052 (PubMed )
Supplement: 40478_2024_1879_MOESM3_ESM.xlsx › NGY-R2A

GLI1 confers resistance to PARP inhibitors by activating the DNA damage repair pathway.

Ikeuchi H et al.

Oncogene, 2024

39095584 (PubMed )
Supplement: 41388_2024_3105_MOESM2_ESM.xlsx › Supplementary_Table_S6

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

Catli G et al.

Molecular and Cellular Endocrinology, 2023

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

Hwa V

Molecular and Cellular Endocrinology, 2021

Sphere-Forming Culture for Expanding Genetically Distinct Patient-Derived Glioma Stem Cells by Cellular Growth Rate Screening.

Shin K et al.

Cancers, 2020

32120790 (PubMed )
Supplement: cancers-12-00549-s001.zip › cancers-663915-Supplementary_Tables_.xlsx › Table_S3

Micropapillary variant of mucinous carcinoma of the breast shows genetic alterations intermediate between those of mucinous carcinoma and micropapillary carcinoma.

Pareja F et al.

Histopathology, 2019

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J et al.

Nature Communications, 2018

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect.

Scalco RC et al.

Genetics and Molecular Biology, 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."