Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA.
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Hum Mutat. 2021 May;42(5):577-591. doi: 10.1002/humu.24190. Epub 2021 Mar 6.
Hum Mutat. 2021.
PMID: 33644933
Free PMC article.