Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.R762Splc
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MECOM

NM_001105078.4:p.R762Splc

Associated Papers

A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.

Huang D et al.

Bmc Pediatrics, 2024

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

37091189 (PubMed )
Supplement: Table_1.xlsx › MECOM

Phenotypic heterogeneity in individuals with MECOM variants in 2 families.

Niihori T et al.

Blood Advances, 2022

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