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And most of affected patients are compound heterozygotes of these CBS mutations 10,14,15,19

CD38-Driven Mitochondrial Trafficking Promotes Bioenergetic Plasticity in Multiple Myeloma

Identification and in vivo functional analysis of a novel missense mutation in GATA3 causing hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome in a Chinese family

[DOI] [PubMed] [Google Scholar] 199.Attems J, Toledo JB, Walker L, Gelpi E, Gentleman S, Halliday G, Hortobagyi T, Jellinger K, Kovacs GG, Lee EB, et al