Publications
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Filters: Keyword is Mutation, Missense and Author is Seven, Mehmet [Clear All Filters]
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
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