Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.Y949C
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MECOM

NM_004991.4:p.Y949C

Associated Papers

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

Voit RA et al.

Journal of Clinical Immunology, 2023

Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.

Lozano Chinga MM et al.

American Journal of Medical Genetics. Part A, 2023

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

Feurstein S

Frontiers in Oncology, 2023

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