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Wiley, Human Mutation: Variation, Informatics and Disease, 5(42), p. 577-591, 2021

DOI: 10.1002/humu.24190

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Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

Journal article published in 2021 by Michael M. Khayat ORCID, He Li ORCID, Varuna Chander, Jianhong Hu, Adam W. Hansen ORCID, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L. Johnson, James R. Lupski ORCID, Jennifer E. Posey ORCID, Aniko Sabo ORCID, Qingchang Meng and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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