Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.H751Y
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MECOM

NM_001105078.4:p.H751Y

Associated Papers

MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.

Voit RA et al.

Journal of Clinical Immunology, 2023

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

Feurstein S

Frontiers in Oncology, 2023

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

Germeshausen M et al.

Blood Advances, 2018

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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."