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Nat Rev Nephrol
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Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype..
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Sheppard, S, Campbell, I, Harr, M, Gold, N, Li, D, Bjornsson, H, Cohen, J, Fahrner, J, Fatemi, A, Harris, J, et al.
eP291 Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome.
Molecular Genetics and Metabolism
132:
s183
2021
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DiStefano, M, Goehringer, S, Amberger, J, Tse, CA, Balzotti, M, Berg, J, Birney, E, Bocchini, C, Bruford, E, Coffey, A, et al.
eP348 Launch of the gene curation coalition database.
Molecular Genetics and Metabolism
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2021
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