Varaico: Literature-Extracted Genetic Variants

Gene:MECOM
Variant:p.R950T
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MECOM

NM_004991.4:p.R950T

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

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Parikh JR et al.

Hgg Advances, 2021

34514437 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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