Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.R938W
Back to variants list

MECOM

NM_004991.4:p.R938W

Associated Papers

A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.

Ammeti D et al.

British Journal of Haematology, 2023

Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failure.

Dash CA et al.

Cold Spring Harbor Molecular Case Studies, 2023

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.

Feurstein S

Frontiers in Oncology, 2023

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A et al.

Nature Communications, 2020

Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality.

Osumi T et al.

Pediatric Blood & Cancer, 2018

MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Germeshausen M et al.

Blood Advances, 2018

MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

Ripperger T et al.

Haematologica, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."