Varaico: Literature-Extracted Genetic Variants

Gene:CUBN
Variant:p.Q758*
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CUBN

NM_001081.4:p.Q758*

Associated Papers

Imerslund-Gräsbeck syndrome: a comprehensive review of reported cases.

Kingma SDK et al.

Orphanet Journal of Rare Diseases, 2023

37710296 (PubMed )
Supplement: 13023_2023_2889_MOESM2_ESM.xlsx › Tabel_artikel

A 17-Month-old Boy With Pancytopenia Caused by a Rare Genetic Defect of Vitamin B12 Malabsorption.

Baker KM et al.

Journal of Pediatric Hematology/oncology, 2022

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