Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.R361G
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GATA2

NM_032638.5:p.R361G

Associated Papers

[Alert in germline mutation predisposed to myeloid neoplasm: myelodysplastic syndromes accompanied with GATA2 deficeincy syndrome].

Yao H et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2021

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H et al.

International Journal of Hematology, 2021

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J et al.

Haematologica, 2018

29724903 (PubMed )
Supplement: 2017.181909.DONADIEU_SUPPL.pdf

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Guidugli L et al.

Leukemia, 2017

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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."