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Human Mutation|May 1, 2025
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature ReviewJun Kido, Keishin Sugawara, Sotiria Tavoulari, et al.
Human Mutation|April 23, 2025
Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable ImmunodeficiencyTayebeh Ranjbarnejad, Hassan Abolhassani, Roya Sherkat, et al.
Human Mutation|April 14, 2025
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum DeformityCristina Chelleri, Marcello Scala, Patrizia De Marco, et al.
Human Mutation|April 14, 2025
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) GeneJoshua S Clayton, Mridul Johari, Rhonda L Taylor, et al.
Human Mutation|April 14, 2025
Quantitative Phenotype Morbidity Description of SATB2-Associated SyndromeYuri A Zarate, Katherine Bosanko, Amrit Kannan, et al.
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