Associated Papers
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
Pappas KB et al.
American Journal of Medical Genetics. Part A, 2022
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
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