Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.H939R
Back to variants list

MECOM

NM_004991.4:p.H939R

Associated Papers

Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.

Nagai K et al.

Blood Advances, 2023

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

Feurstein S

Frontiers in Oncology, 2023

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Walne A et al.

Haematologica, 2018

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

Ripperger T et al.

Haematologica, 2018

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Niihori T et al.

American Journal of Human Genetics, 2015

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."