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Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Author: Sarret, Catherine; Ashkavand, Zahra; Paules, Evan; Dorboz, Imen; Pediaditakis, Peter; Sumner, Susan; Eymard-Pierre, Eléonore; Francannet, Christine; Krupenko, Natalia I.; Boespflug-Tanguy, Odile; Krupenko, Sergey A.
Year Published: 2019
Media Outlet: npj Genomic Medicine

Open Access? No

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