Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.R924Splc
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MECOM

NM_004991.4:p.R924Splc

Associated Papers

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

Voit RA et al.

Journal of Clinical Immunology, 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

Phenotypic heterogeneity in individuals with MECOM variants in 2 families.

Niihori T et al.

Blood Advances, 2022

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