Associated Papers
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F et al.
American Journal of Medical Genetics. Part A, 2022
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
Hannah-Shmouni F et al.
American Journal of Medical Genetics. Part A, 2018
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