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Nitrogen Permease Regulator Like-2 (NPRL2 ) truncating mutation causes Ohtahara syndrome with incomplete penetrance: expanding the genotype-phenotype correlations.

Clinical dysmorphology - 1 Oct 2022

Zhou Xing, Chen Feng-Ying, Ye Xing-Guang, Liu Zhi-Gang

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PMID: 35731010
DOI: 10.1097/MCD.0000000000000428

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