Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.P254L
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GATA2

NM_032638.5:p.P254L

Associated Papers

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S2

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

Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Bresnick EH et al.

Blood Advances, 2020

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Hsu AP et al.

Blood, 2013

Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies.

Bresnick EH et al.

Nucleic Acids Research, 2012

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H et al.

British Journal of Haematology, 2012

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Hsu AP et al.

Blood, 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."